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Entry
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- *107730 - APOLIPOPROTEIN B; APOB
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*107730</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/107730">Table View</a>
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<li role="presentation">
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<a href="#seeAlso"><strong>See Also</strong></a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<div id="mimFloatingLinksMenu">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000084674;t=ENST00000233242" class="mim-tip-hint" title="Genome databases for vertebrates and other eukaryotic species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/browser/gene/?id=338" class="mim-tip-hint" title="Detailed views of the complete genomes of selected organisms from vertebrates to protozoa." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Genome Viewer', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Genome Viewer</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=107730" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000084674;t=ENST00000233242" class="mim-tip-hint" title="Transcript-based views for coding and noncoding DNA." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl (MANE Select)</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_000384" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_000384" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq (MANE)', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq (MANE Select)</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=107730" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=00133&isoform_id=00133_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
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<div><a href="https://www.proteinatlas.org/search/APOB" class="mim-tip-hint" title="The Human Protein Atlas contains information for a large majority of all human protein-coding genes regarding the expression and localization of the corresponding proteins based on both RNA and protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HumanProteinAtlas', 'domain': 'proteinatlas.org'})">Human Protein Atlas</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/protein/28780,28789,28791,34331,178730,178732,178734,178736,178738,178739,178755,178790,178792,178794,178798,178800,178802,178804,178812,178814,178818,178822,553189,639616,929609,1340151,2182278,4378963,4378964,4378965,4378966,7717461,30802081,32187679,62087272,62630102,62702322,119621206,119621207,119621208,158255124,225131003,306411089,306411091,306411093,306411095,306569733,444737829,523506384,523506392,523506395,1653961440,2664703076" class="mim-tip-hint" title="NCBI protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Protein', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Protein</a></div>
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<div><a href="https://www.uniprot.org/uniprotkb/P04114" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=338" class="mim-tip-hint" title="The Gene Portal Hub; customizable portal of gene and protein function information." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'BioGPS', 'domain': 'biogps.org'})">BioGPS</a></div>
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<div><a href="https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000084674;t=ENST00000233242" class="mim-tip-hint" title="Orthologs, paralogs, regulatory regions, and splice variants." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.genecards.org/cgi-bin/carddisp.pl?gene=APOB" class="mim-tip-hint" title="The Human Genome Compendium; web-based cards integrating automatically mined information on human genes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneCards', 'domain': 'genecards.org'})">GeneCards</a></div>
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<div><a href="http://amigo.geneontology.org/amigo/search/annotation?q=APOB" class="mim-tip-hint" title="Terms, defined using controlled vocabulary, representing gene product properties (biologic process, cellular component, molecular function) across species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneOntology', 'domain': 'amigo.geneontology.org'})">Gene Ontology</a></div>
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<div><a href="https://www.genome.jp/dbget-bin/www_bget?hsa+338" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<dd><a href="http://v1.marrvel.org/search/gene/APOB" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
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<dd><a href="https://monarchinitiative.org/NCBIGene:338" class="mim-tip-hint" title="Monarch Initiative." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Monarch', 'domain': 'monarchinitiative.org'})">Monarch</a></dd>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/338" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr2&hgg_gene=ENST00000233242.5&hgg_start=21001429&hgg_end=21044073&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:603" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:603" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/apob" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=107730[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=107730[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000084674" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=APOB" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=APOB" class="mim-tip-hint" title="GWAS Central; summary level genotype-to-phenotype information from genetic association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Central', 'domain': 'gwascentral.org'})">GWAS Central </a></div>
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<div><a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=APOB" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=APOB&upstreamSize=0&downstreamSize=0&x=0&y=0" class="mim-tip-hint" title="National Heart, Lung, and Blood Institute Exome Variant Server." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NHLBI EVS', 'domain': 'evs.gs.washington.edu'})">NHLBI EVS</a></div>
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<div><a href="https://www.pharmgkb.org/gene/PA50" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/gene/HGNC:603" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:88052" class="mim-tip-hint" title="International Mouse Phenotyping Consortium." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'IMPC', 'domain': 'knockoutmouse.org'})">IMPC</a></div>
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<div><a href="http://v1.marrvel.org/search/gene/APOB#HomologGenesPanel" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></div>
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<div><a href="http://www.informatics.jax.org/marker/MGI:88052" class="mim-tip-hint" title="Mouse Genome Informatics; international database resource for the laboratory mouse, including integrated genetic, genomic, and biological data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Gene', 'domain': 'informatics.jax.org'})">MGI Mouse Gene</a></div>
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<div><a href="https://www.mmrrc.org/catalog/StrainCatalogSearchForm.php?search_query=" class="mim-tip-hint" title="Mutant Mouse Resource & Research Centers." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MMRRC', 'domain': 'mmrrc.org'})">MMRRC</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/338/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://omia.org/OMIA001965/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=338" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-030131-9732" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
|
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:107730" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:338" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=APOB&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 238040008, 238081000, 442411007, 60193003<br />
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<strong>ICD10CM:</strong> E78.2, E78.6<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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107730
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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APOLIPOPROTEIN B; APOB
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="includedTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
|
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Other entities represented in this entry:
|
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</span>
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</p>
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</div>
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<div>
|
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<span class="h3 mim-font">
|
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APOB100, INCLUDED
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</span>
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</div>
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<div>
|
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<span class="h4 mim-font">
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APOB48, INCLUDED<br />
|
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APOLIPOPROTEIN B ALLOTYPES, INCLUDED<br />
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Ag LIPOPROTEIN TYPES, INCLUDED
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</span>
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</div>
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</div>
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<div>
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<br />
|
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</div>
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</div>
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<div>
|
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=APOB" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">APOB</a></em></strong>
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</span>
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</p>
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</div>
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<div>
|
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong>
|
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<em>
|
|
Cytogenetic location: <a href="/geneMap/2/80?start=-3&limit=10&highlight=80">2p24.1</a>
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|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr2:21001429-21044073&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">2:21,001,429-21,044,073</a> </span>
|
|
</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
|
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</p>
|
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</div>
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<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
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<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
|
|
<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=144010,615558" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
|
|
</span>
|
|
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/2/80?start=-3&limit=10&highlight=80">
|
|
2p24.1
|
|
</a>
|
|
</span>
|
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</td>
|
|
|
|
|
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<td>
|
|
<span class="mim-font">
|
|
Hypercholesterolemia, familial, 2
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/144010"> 144010 </a>
|
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|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
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</span>
|
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</td>
|
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<td>
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<p>Apolipoprotein B is the main apolipoprotein on chylomicrons and low density lipoproteins (LDLs). It occurs in the plasma in 2 main forms, apoB48 and apoB100. The first is synthesized exclusively by the intestine, the second by the liver (summary by <a href="#78" class="mim-tip-reference" title="Law, S. W., Lackner, K. J., Hospattankar, A. V., Anchors, J. M., Sakaguchi, A. Y., Naylor, S. L., Brewer, H. B., Jr. <strong>Human apolipoprotein B-100: cloning, analysis of liver mRNA, and assignment of the gene to chromosome 2.</strong> Proc. Nat. Acad. Sci. 82: 8340-8344, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3001697/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3001697</a>] [<a href="https://doi.org/10.1073/pnas.82.24.8340" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3001697">Law et al., 1985</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3001697" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#85" class="mim-tip-reference" title="Lusis, A. J., West, R., Mehrabian, M., Reuben, M. A., LeBoeuf, R. C., Kaptein, J. S., Johnson, D. F., Schumaker, V. N., Yuhasz, M. P., Schotz, M. C., Elovson, J. <strong>Cloning and expression of apolipoprotein B, the major protein of low and very low density lipoproteins.</strong> Proc. Nat. Acad. Sci. 82: 4597-4601, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3860811/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3860811</a>] [<a href="https://doi.org/10.1073/pnas.82.14.4597" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3860811">Lusis et al. (1985)</a> identified cDNA clones for rat liver apoB. <a href="#78" class="mim-tip-reference" title="Law, S. W., Lackner, K. J., Hospattankar, A. V., Anchors, J. M., Sakaguchi, A. Y., Naylor, S. L., Brewer, H. B., Jr. <strong>Human apolipoprotein B-100: cloning, analysis of liver mRNA, and assignment of the gene to chromosome 2.</strong> Proc. Nat. Acad. Sci. 82: 8340-8344, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3001697/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3001697</a>] [<a href="https://doi.org/10.1073/pnas.82.24.8340" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3001697">Law et al. (1985)</a> cloned human APOB. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3001697+3860811" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#34" class="mim-tip-reference" title="Deeb, S. S., Disteche, C., Motulsky, A. G., Lebo, R. V., Kan, Y. W. <strong>Chromosomal localization of the human apolipoprotein B gene and detection of homologous RNA in monkey intestine.</strong> Proc. Nat. Acad. Sci. 83: 419-422, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3455779/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3455779</a>] [<a href="https://doi.org/10.1073/pnas.83.2.419" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3455779">Deeb et al. (1986)</a> found that APOB RNA isolated from monkey small intestine contained sequences homologous to the cDNA of apolipoprotein B100. These results were interpreted as indicating that intestinal (B48) and hepatic (B100) forms of apoB are coded by a single gene. <a href="#47" class="mim-tip-reference" title="Glickman, R. M., Rogers, M., Glickman, J. N. <strong>Apolipoprotein B synthesis by human liver and intestine in vitro.</strong> Proc. Nat. Acad. Sci. 83: 5296-5300, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3460091/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3460091</a>] [<a href="https://doi.org/10.1073/pnas.83.14.5296" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3460091">Glickman et al. (1986)</a> found a single mRNA transcript for apoB regardless of the form of apoB (apoB100 or apoB48) synthesized in the liver or intestine. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3460091+3455779" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#59" class="mim-tip-reference" title="Hospattankar, A. V., Fairwell, T., Meng, M., Ronan, R., Brewer, H. B., Jr. <strong>Identification of sequence homology between human plasma apolipoprotein B-100 and apolipoprotein B-48.</strong> J. Biol. Chem. 261: 9102-9104, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3522585/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3522585</a>]" pmid="3522585">Hospattankar et al. (1986)</a> presented some immunologic data suggesting that the 2 proteins share a common carboxyl region sequence. <a href="#28" class="mim-tip-reference" title="Chen, S.-H., Yang, C.-Y., Chen, P.-F., Setzer, D., Tanimura, M., Li, W. H., Gotto, A. M., Jr., Chan, L. <strong>The complete cDNA and amino acid sequence of human apolipoprotein B-100.</strong> J. Biol. Chem. 261: 12918-12921, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3759943/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3759943</a>]" pmid="3759943">Chen et al. (1986)</a> determined the complete cDNA and amino acid sequence of apoB100. <a href="#71" class="mim-tip-reference" title="Knott, T. J., Pease, R. J., Powell, L. M., Wallis, S. C., Rall, S. C., Jr., Innerarity, T. L., Blackhart, B., Taylor, W. H., Marcel, Y., Milne, R., Johnson, D., Fuller, M., Lusis, A. J., McCarthy, B. J., Mahley, R. W., Levy-Wilson, B., Scott, J. <strong>Complete protein sequence and identification of structural domains of human apolipoprotein B.</strong> Nature 323: 734-738, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3773997/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3773997</a>] [<a href="https://doi.org/10.1038/323734a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3773997">Knott et al. (1986)</a> reported the primary structure of apolipoprotein B. The precursor has 4,563 amino acids; the mature apoB100 has 4,536 amino acid residues. This represents a very large mRNA of more than 16 kb. <a href="#76" class="mim-tip-reference" title="Law, A., Wallis, S. C., Powell, L. M., Pease, R. J., Brunt, H., Priestley, L. M., Knott, T. J., Scott, J., Altman, D. G., Miller, G. J., Rajput, J., Miller, N. E. <strong>Common DNA polymorphism within coding sequence of apolipoprotein B gene associated with altered lipid levels.</strong> Lancet 327: 1301-1303, 1986. Note: Originally Volume I.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2872432/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2872432</a>] [<a href="https://doi.org/10.1016/s0140-6736(86)91222-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2872432">Law et al. (1986)</a> also provided the complete nucleotide and derived amino acid sequence of apoB100 from a study of cDNA. Strong evidence that apoB100 and apoB48 are products of the same gene was provided by <a href="#129" class="mim-tip-reference" title="Young, S. G., Bertics, S. J., Curtiss, L. K., Casal, D. C., Witztum, J. L. <strong>Monoclonal antibody MB19 detects genetic polymorphism in human apolipoprotein B.</strong> Proc. Nat. Acad. Sci. 83: 1101-1105, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2419898/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2419898</a>] [<a href="https://doi.org/10.1073/pnas.83.4.1101" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2419898">Young et al. (1986)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3522585+3773997+2872432+3759943+2419898" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#29" class="mim-tip-reference" title="Cladaras, C., Hadzopoulou-Cladaras, M., Nolte, R. T., Atkinson, D., Zannis, V. I. <strong>The complete sequence and structural analysis of human apolipoprotein B-100: relationship between apoB-100 and apoB-48 forms.</strong> EMBO J. 5: 3495-3507, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3030729/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3030729</a>] [<a href="https://doi.org/10.1002/j.1460-2075.1986.tb04675.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3030729">Cladaras et al. (1986)</a> concluded from the sequence of apolipoprotein B100 that apoB48 may result from differential splicing of the same primary apoB mRNA transcript. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3030729" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#50" class="mim-tip-reference" title="Hardman, D. A., Protter, A. A., Chen, G. C., Schilling, J. W., Sato, K. Y., Lau, K., Yamanaka, M., Mikita, T., Miller, J., Crisp, T., McEnroe, G., Scarborough, R. M., Kane, J. P. <strong>Structural comparisons of human apolipoproteins B-48 and B-100.</strong> Biochemistry 26: 5478-5486, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3676265/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3676265</a>] [<a href="https://doi.org/10.1021/bi00391a040" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3676265">Hardman et al. (1987)</a> found that mature, circulating B48 is homologous over its entire length (estimated to be between 2,130 and 2,144 amino acid residues) with the amino-terminal portion of B100 and contains no sequence from the carboxyl end of B100. From structural studies, <a href="#66" class="mim-tip-reference" title="Innerarity, T. L., Weisgraber, K. H., Arnold, K. S., Mahley, R. W., Krauss, R. M., Vega, G. L., Grundy, S. M. <strong>Familial defective apolipoprotein B-100: low density lipoproteins with abnormal receptor binding.</strong> Proc. Nat. Acad. Sci. 84: 6919-6923, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3477815/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3477815</a>] [<a href="https://doi.org/10.1073/pnas.84.19.6919" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3477815">Innerarity et al. (1987)</a> concluded that apoB48 represents the amino-terminal 47% of apoB100 and that the carboxyl terminus of apoB48 is in the vicinity of residue 2151 of apoB100. <a href="#27" class="mim-tip-reference" title="Chen, S.-H., Habib, G., Yang, C.-Y., Gu, Z.-W., Lee, B. R., Weng, S., Silberman, S. R., Cai, S.-J., Deslypere, J. P., Rosseneu, M., Gotto, A. M., Jr., Li, W.-H., Chan, L. <strong>Apolipoprotein B-48 is the product of a messenger RNA with an organ-specific in-frame stop codon.</strong> Science 238: 363-366, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3659919/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3659919</a>] [<a href="https://doi.org/10.1126/science.3659919" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3659919">Chen et al. (1987)</a> deduced that human apolipoprotein B48 is the product of an intestinal mRNA with an in-frame UAA stop codon resulting from a C-to-U change in the codon CAA encoding Gln(2153) in apoB100 mRNA. The carboxyl-terminal ile-2152 of apoB48 purified from chylous ascites fluid has apparently been cleaved from the initial translation product, leaving met-2151 as the new carboxyl-terminus. The organ-specific introduction of a stop codon to an mRNA is an unprecedented finding. Only the sequence that codes B100 is present in genomic DNA. The change from CAA to UAA as codon 2153 of the message is a unique RNA editing process. <a href="#55" class="mim-tip-reference" title="Higuchi, K., Hospattankar, A. V., Law, S. W., Meglin, N., Cortright, J., Brewer, H. B., Jr. <strong>Human apolipoprotein B (apoB) mRNA: identification of two distinct apoB mRNAs, an mRNA with the apoB-100 sequence and an apoB mRNA containing a premature in-frame translational stop codon, in both liver and intestine.</strong> Proc. Nat. Acad. Sci. 85: 1772-1776, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2450346/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2450346</a>] [<a href="https://doi.org/10.1073/pnas.85.6.1772" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2450346">Higuchi et al. (1988)</a> reported similar findings. ApoB48 contains 2,152 residues compared to 4,535 residues in apoB100. Using a cloned rat cDNA as a probe, <a href="#75" class="mim-tip-reference" title="Lau, P. P., Zhu, H.-J., Baldini, A., Charnsangavej, C., Chan, L. <strong>Dimeric structure of a human apolipoprotein B mRNA editing protein and cloning and chromosomal localization of its gene.</strong> Proc. Nat. Acad. Sci. 91: 8522-8526, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8078915/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8078915</a>] [<a href="https://doi.org/10.1073/pnas.91.18.8522" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8078915">Lau et al. (1994)</a> cloned cDNA and genomic sequences of the gene for the human APOB mRNA editing protein (BEDP; <a href="/entry/600130">600130</a>). Expression of the cDNA in HepG2 cells resulted in editing of the intracellular apoB mRNA. By Northern blot analysis, they showed that the human BEDP mRNA is expressed exclusively in the small intestine. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3477815+2450346+8078915+3676265+3659919" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#78" class="mim-tip-reference" title="Law, S. W., Lackner, K. J., Hospattankar, A. V., Anchors, J. M., Sakaguchi, A. Y., Naylor, S. L., Brewer, H. B., Jr. <strong>Human apolipoprotein B-100: cloning, analysis of liver mRNA, and assignment of the gene to chromosome 2.</strong> Proc. Nat. Acad. Sci. 82: 8340-8344, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3001697/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3001697</a>] [<a href="https://doi.org/10.1073/pnas.82.24.8340" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3001697">Law et al. (1985)</a> assigned the APOB gene to chromosome 2 by filter hybridization with DNA from human/mouse somatic cell hybrids. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3001697" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By somatic cell hybrid studies and by in situ hybridization, <a href="#72" class="mim-tip-reference" title="Knott, T. J., Rall, S. C., Jr., Innerarity, T. L., Jacobson, S. F., Urdea, M. S., Levy-Wilson, B., Powell, L. M., Pease, R. J., Eddy, R., Nakai, H., Byers, M., Priestley, L. M., Robertson, E., Rall, L. B., Betsholtz, C., Shows, T. B., Mahley, R. W., Scott, J. <strong>Human apolipoprotein B: structure of carboxyl-terminal domains, sites of gene expression, and chromosomal localization.</strong> Science 230: 37-43, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2994225/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2994225</a>] [<a href="https://doi.org/10.1126/science.2994225" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2994225">Knott et al. (1985)</a> assigned the APOB gene to the tip of 2p in band p24. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2994225" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#34" class="mim-tip-reference" title="Deeb, S. S., Disteche, C., Motulsky, A. G., Lebo, R. V., Kan, Y. W. <strong>Chromosomal localization of the human apolipoprotein B gene and detection of homologous RNA in monkey intestine.</strong> Proc. Nat. Acad. Sci. 83: 419-422, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3455779/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3455779</a>] [<a href="https://doi.org/10.1073/pnas.83.2.419" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3455779">Deeb et al. (1986)</a> used a hybridization probe to detect homologous sequences in both flow-sorted and in situ metaphase chromosomes. The gene was assigned to 2p24-p23. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3455779" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>From study of chromosomal aberrations in somatic cell hybrids, <a href="#60" class="mim-tip-reference" title="Huang, L.-S., Miller, D. A., Bruns, G. A. P., Breslow, J. L. <strong>Mapping of the human APOB gene to chromosome 2p and demonstration of a two-allele restriction fragment length polymorphism.</strong> Proc. Nat. Acad. Sci. 83: 644-648, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3003743/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3003743</a>] [<a href="https://doi.org/10.1073/pnas.83.3.644" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3003743">Huang et al. (1986)</a> concluded that the APOB locus is located in either the 2p21-p23 or the 2pter-p24 segment. <a href="#90" class="mim-tip-reference" title="Mehrabian, M., Sparkes, R. S., Mohandas, T., Klisak, I. J., Schumaker, V. N., Heinzmann, C., Zollman, S., Ma, Y., Lusis, A. J. <strong>Human apolipoprotein B: chromosomal mapping and DNA polymorphisms of hepatic and intestinal species.</strong> Somat. Cell Molec. Genet. 12: 245-254, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3012797/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3012797</a>] [<a href="https://doi.org/10.1007/BF01570783" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3012797">Mehrabian et al. (1986)</a> localized APOB to 2p24-p23 by somatic cell hybridization and in situ hybridization. Filter hybridization studies with genomic DNA and with hepatic and intestinal mRNA suggested that hepatic and intestinal apoB are derived from the same gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3003743+3012797" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#76" class="mim-tip-reference" title="Law, A., Wallis, S. C., Powell, L. M., Pease, R. J., Brunt, H., Priestley, L. M., Knott, T. J., Scott, J., Altman, D. G., Miller, G. J., Rajput, J., Miller, N. E. <strong>Common DNA polymorphism within coding sequence of apolipoprotein B gene associated with altered lipid levels.</strong> Lancet 327: 1301-1303, 1986. Note: Originally Volume I.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2872432/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2872432</a>] [<a href="https://doi.org/10.1016/s0140-6736(86)91222-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2872432">Law et al. (1986)</a> used a specific mouse monoclonal antibody, MB19, to characterize a common form of genetic polymorphism of APOB. They found that the polymorphism was expressed in a parallel manner in apoB100 and apoB48. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2872432" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#76" class="mim-tip-reference" title="Law, A., Wallis, S. C., Powell, L. M., Pease, R. J., Brunt, H., Priestley, L. M., Knott, T. J., Scott, J., Altman, D. G., Miller, G. J., Rajput, J., Miller, N. E. <strong>Common DNA polymorphism within coding sequence of apolipoprotein B gene associated with altered lipid levels.</strong> Lancet 327: 1301-1303, 1986. Note: Originally Volume I.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2872432/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2872432</a>] [<a href="https://doi.org/10.1016/s0140-6736(86)91222-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2872432">Law et al. (1986)</a> found that 60 of 83 middle-aged white men had an XbaI restriction site polymorphism within the coding sequence of the apoB gene. Persons homozygous or heterozygous for the XbaI restriction site had mean serum triglyceride levels 36% higher than homozygotes without the site. Mean serum cholesterol was less strikingly elevated in those with the restriction site. The Ag system of lipoprotein antigens (see later) is known to represent polymorphism of the APOB locus. It is in strong linkage disequilibrium with the XbaI RFLP; the 2 probably reveal the same association with plasma lipids. <a href="#90" class="mim-tip-reference" title="Mehrabian, M., Sparkes, R. S., Mohandas, T., Klisak, I. J., Schumaker, V. N., Heinzmann, C., Zollman, S., Ma, Y., Lusis, A. J. <strong>Human apolipoprotein B: chromosomal mapping and DNA polymorphisms of hepatic and intestinal species.</strong> Somat. Cell Molec. Genet. 12: 245-254, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3012797/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3012797</a>] [<a href="https://doi.org/10.1007/BF01570783" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3012797">Mehrabian et al. (1986)</a> also identified 2 common RFLPs which should be useful in family studies. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2872432+3012797" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#83" class="mim-tip-reference" title="Ludwig, E. H., Friedl, W., McCarthy, B. J. <strong>High-resolution analysis of a hypervariable region in the human apolipoprotein B gene.</strong> Am. J. Hum. Genet. 45: 458-464, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2773938/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2773938</a>]" pmid="2773938">Ludwig et al. (1989)</a> described a hypervariable region 3-prime to the human APOB gene. By PCR amplification of the region followed by electrophoresis in a denaturing acrylamide gel, they found 14 different alleles containing 25 to 52 repeats of a 15-basepair unit in 318 unrelated individuals. <a href="#18" class="mim-tip-reference" title="Boerwinkle, E., Xiong, W., Fourest, E., Chan, L. <strong>Rapid typing of tandemly repeated hypervariable loci by the polymerase chain reaction: application to the apolipoprotein B 3-prime hypervariable region.</strong> Proc. Nat. Acad. Sci. 86: 212-216, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2911570/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2911570</a>] [<a href="https://doi.org/10.1073/pnas.86.1.212" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2911570">Boerwinkle et al. (1989)</a> also made observations on this variable-number-of-tandem-repeats (VNTR) polymorphism. <a href="#17" class="mim-tip-reference" title="Boehnke, M. <strong>Allele frequency estimation from data on relatives.</strong> Am. J. Hum. Genet. 48: 22-25, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1985459/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1985459</a>]" pmid="1985459">Boehnke (1991)</a> used the VNTR polymorphism near the APOB locus as a test case for his method of estimating allele frequency from data on relatives. He stated that there are 15 known APOB VNTR alleles and that 12 were observed in the families he studied. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2773938+2911570+1985459" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By use of both pedigree linkage analysis and sib-pair linkage analysis in 23 informative families, <a href="#31" class="mim-tip-reference" title="Coresh, J., Beaty, T. H., Kwiterovich, P. O., Jr., Antonarakis, S. E. <strong>Pedigree and sib-pair linkage analysis suggest the apolipoprotein B gene is not the major gene influencing plasma apolipoprotein B levels.</strong> Am. J. Hum. Genet. 50: 1038-1045, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1570833/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1570833</a>]" pmid="1570833">Coresh et al. (1992)</a> found no evidence of common APOB alleles that had a major influence on plasma levels of apoB100. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1570833" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#110" class="mim-tip-reference" title="Singh, M. K., Pandey, U. B., Ghoshal, U. C., Srivenu, I., Kapoor, V. K., Choudhuri, G., Mittal, B. <strong>Apolipoprotein B-100 XbaI gene polymorphism in gallbladder cancer.</strong> Hum. Genet. 114: 280-283, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14618390/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14618390</a>] [<a href="https://doi.org/10.1007/s00439-003-1056-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14618390">Singh et al. (2004)</a> examined the association between the XbaI polymorphism of APOB100 and gallbladder diseases, including gallbladder cancer, in a non-Indian population in which both gallstones and gallbladder cancer are common. They found that the frequency of X- allele was significantly increased in gallbladder cancer patients with or without gallstones (odds ratio = 2.3 and 1.7, respectively). They suggested that the apoB-XbaI gene polymorphism confers susceptibility to carcinoma of the gallbladder under specific environmental conditions. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14618390" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>The base change in APOB that creates the XbaI site, 7673C-T, does not change the amino acid threonine at codon 2488 (T2488T). In a study comprising 9,185 individuals from the general population, 2,157 patients with ischemic heart disease (IHD), and 378 patients with ischemic cerebrovascular disease (ICVD), <a href="#8" class="mim-tip-reference" title="Benn, M., Nordestgaard, B. G., Jensen, J. S., Grande, P., Sillesen, H., Tybjaerg-Hansen, A. <strong>Polymorphism in APOB associated with increases low-density lipoprotein levels in both genders in the general population.</strong> J. Clin. Endocr. Metab. 90: 5797-5803, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16030169/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16030169</a>] [<a href="https://doi.org/10.1210/jc.2005-0974" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16030169">Benn et al. (2005)</a> found that the APOB 7673C-T polymorphism is associated with moderate increases in total cholesterol, LDL cholesterol, and apoB in both genders in the general population, but not with risk of IHD or ICVD or with total mortality. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16030169" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Benn, M., Nordestgaard, B. G., Jensen, J. S., Tybjaerg-Hansen, A. <strong>Polymorphisms in apolipoprotein B and risk of ischemic stroke.</strong> J. Clin. Endocr. Metab. 92: 3611-3617, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17595251/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17595251</a>] [<a href="https://doi.org/10.1210/jc.2007-0221" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17595251">Benn et al. (2007)</a> found that APOB K4154K homozygotes for the E4154K polymorphism had an age-adjusted hazard ratio of 0.4 (95% CI, 0.2-0.9) for ischemic cerebrovascular disease and 0.2 (CI, 0.1-0.7) for ischemic stroke relative to E4154E homozygotes. Furthermore, E4154K heterozygotes and K4154K homozygotes had lower levels of apolipoprotein B and LDL cholesterol, compared with E4154E homozygotes. APOB K4154K homozygosity predicted a 3- to 5-fold reduction in risk of ischemic cerebrovascular disease and ischemic stroke. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17595251" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#35" class="mim-tip-reference" title="Demant, T., Houlston, R. S., Caslake, M. J., Series, J. J., Shepherd, J., Packard, C. J., Humphries, S. E. <strong>Catabolic rate of low density lipoprotein is influenced by variation in the apolipoprotein B gene.</strong> J. Clin. Invest. 82: 797-802, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2901432/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2901432</a>] [<a href="https://doi.org/10.1172/JCI113681" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2901432">Demant et al. (1988)</a> found a significant association between a particular RFLP of the APOB gene and the total fractional clearance rate of LDL. Presumably, this effect acts through variable binding to the LDLR and is a significant factor in the rate of catabolism of LDL. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2901432" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#70" class="mim-tip-reference" title="Kathiresan, S., Melander, O., Anevski, D., Guiducci, C., Burtt, N. P., Roos, C., Hirschhorn, J. N., Berglund, G., Hedblad, B., Groop, L., Altshuler, D. M., Newton-Cheh, C., Orho-Melander, M. <strong>Polymorphisms associated with cholesterol and risk of cardiovascular events.</strong> New Eng. J. Med. 358: 1240-1249, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18354102/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18354102</a>] [<a href="https://doi.org/10.1056/NEJMoa0706728" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18354102">Kathiresan et al. (2008)</a> studied SNPs in 9 genes in 5,414 subjects from the cardiovascular cohort of the Malmo Diet and Cancer Study. All 9 SNPs, including <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs693;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs693</a> of APOB, had previously been associated with elevated LDL or lower HDL. <a href="#70" class="mim-tip-reference" title="Kathiresan, S., Melander, O., Anevski, D., Guiducci, C., Burtt, N. P., Roos, C., Hirschhorn, J. N., Berglund, G., Hedblad, B., Groop, L., Altshuler, D. M., Newton-Cheh, C., Orho-Melander, M. <strong>Polymorphisms associated with cholesterol and risk of cardiovascular events.</strong> New Eng. J. Med. 358: 1240-1249, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18354102/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18354102</a>] [<a href="https://doi.org/10.1056/NEJMoa0706728" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18354102">Kathiresan et al. (2008)</a> replicated the associations with each SNP and created a genotype score on the basis of the number of unfavorable alleles. With increasing genotype scores, the level of LDL cholesterol increased, whereas the level of HDL cholesterol decreased. At 10-year follow-up, the genotype score was found to be an independent risk factor for incident cardiovascular disease (myocardial infarction, ischemic stroke, or death from coronary heart disease); the score did not improve risk discrimination but modestly improved clinical risk reclassification for individual subjects beyond standard clinical factors. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18354102" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#120" class="mim-tip-reference" title="Teslovich, T. M., Musunuru, K., Smith, A. V., Edmondson, A. C., Stylianou, I. M., Koseki, M., Pirruccello, J. P., Ripatti, S., Chasman, D. I., Willer, C. J., Johansen, C. T., Fouchier, S. W., and 197 others. <strong>Biological, clinical and population relevance of 95 loci for blood lipids.</strong> Nature 466: 707-713, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20686565/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20686565</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20686565[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature09270" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20686565">Teslovich et al. (2010)</a> performed a genomewide association study for plasma lipids in more than 100,000 individuals of European ancestry and reported 95 significantly associated loci (P = less than 5 x 10(-8)), with 59 showing genomewide significant association with lipid traits for the first time. The newly reported associations included SNPs near known lipid regulators as well as in scores of loci not previously implicated in lipoprotein metabolism. The 95 loci contributed not only to normal variation in lipid traits but also to extreme lipid phenotypes and had an impact on lipid traits in 3 non-European populations (East Asians, South Asians, and African Americans). <a href="#120" class="mim-tip-reference" title="Teslovich, T. M., Musunuru, K., Smith, A. V., Edmondson, A. C., Stylianou, I. M., Koseki, M., Pirruccello, J. P., Ripatti, S., Chasman, D. I., Willer, C. J., Johansen, C. T., Fouchier, S. W., and 197 others. <strong>Biological, clinical and population relevance of 95 loci for blood lipids.</strong> Nature 466: 707-713, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20686565/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20686565</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20686565[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature09270" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20686565">Teslovich et al. (2010)</a> identified several novel loci associated with plasma lipids that are also associated with coronary artery disease. <a href="#120" class="mim-tip-reference" title="Teslovich, T. M., Musunuru, K., Smith, A. V., Edmondson, A. C., Stylianou, I. M., Koseki, M., Pirruccello, J. P., Ripatti, S., Chasman, D. I., Willer, C. J., Johansen, C. T., Fouchier, S. W., and 197 others. <strong>Biological, clinical and population relevance of 95 loci for blood lipids.</strong> Nature 466: 707-713, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20686565/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20686565</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20686565[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature09270" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20686565">Teslovich et al. (2010)</a> identified <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1367117;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs1367117</a> in the APOB gene as having an effect on LDL cholesterol with an effect size of +4.05 mg per deciliter and a P value of 4 x 10(-114). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20686565" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Familial Hypercholesterolemia 2, Autosomal Dominant</em></strong></p><p>
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Familial hypercholesterolemia-2 (FHCL2; <a href="/entry/144010">144010</a>) is caused by mutation in APOB causing decreased LDLR (<a href="/entry/606945">606945</a>) binding affinity, so-called familial ligand-defective apolipoprotein B. The first mutation of this sort was described by <a href="#112" class="mim-tip-reference" title="Soria, L. F., Ludwig, E. H., Clarke, H. R. G., Vega, G. L., Grundy, S. M., McCarthy, B. J. <strong>Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100.</strong> Proc. Nat. Acad. Sci. 86: 587-591, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2563166/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2563166</a>] [<a href="https://doi.org/10.1073/pnas.86.2.587" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2563166">Soria et al. (1989)</a>; see <a href="#0009">107730.0009</a>. A second was described by <a href="#99" class="mim-tip-reference" title="Pullinger, C. R., Hennessy, L. K., Chatterton, J. E., Liu, W., Love, J. A., Mendel, C. M., Frost, P. H., Malloy, M. J., Schumaker, V. N., Kane, J. P. <strong>Familial ligand-defective apolipoprotein B: identification of a new mutation that decreases LDL receptor binding affinity.</strong> J. Clin. Invest. 95: 1225-1234, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7883971/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7883971</a>] [<a href="https://doi.org/10.1172/JCI117772" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7883971">Pullinger et al. (1995)</a>; see <a href="#0017">107730.0017</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7883971+2563166" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#32" class="mim-tip-reference" title="Corsini, A., Fantappie, S., Granata, A., Bernini, F., Catapano, A. L., Fumagalli, R., Romano, L., Romano, C. <strong>Binding-defective low-density lipoprotein in family with hypercholesterolaemia.(Letter)</strong> Lancet 339: 623 only, 1989. Note: Originally Volume I.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2564152/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2564152</a>] [<a href="https://doi.org/10.1016/s0140-6736(89)91659-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2564152">Corsini et al. (1989)</a> described familial hypercholesterolemia due not to a defect in the LDLR as in conventional FHCL1 (<a href="/entry/143890">143890</a>), but to binding-defective LDL, presumably familial defective apoB100. <a href="#100" class="mim-tip-reference" title="Rajput-Williams, J., Knott, T. J., Wallis, S. C., Sweetnam, P., Yarnell, J., Cox, N., Bell, G. I., Miller, N. E., Scott, J. <strong>Variation of apolipoprotein-B gene is associated with obesity, high blood cholesterol levels, and increased risk of coronary heart disease.</strong> Lancet 332: 1442-1446, 1988. Note: Originally Volume II.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2904569/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2904569</a>] [<a href="https://doi.org/10.1016/s0140-6736(88)90930-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2904569">Rajput-Williams et al. (1988)</a> demonstrated association of specific alleles for the apoB gene with obesity, high blood cholesterol levels, and increased risk of coronary artery disease. Several of the RFLPs used as markers do not change the amino acid sequence. The authors concluded that these RFLPs are in linkage disequilibrium with nearby functional variation predisposing to obesity or increased risk of coronary artery disease. Variations in serum cholesterol level were associated with 3 functional alleles corresponding to amino acid variants at positions 3611 and 4154, both of which lie near the LDLR binding region of apoB. Products of the APOB gene with high or low affinity for the MB-19 monoclonal antibody can be distinguished. <a href="#46" class="mim-tip-reference" title="Gavish, D., Brinton, E. A., Breslow, J. L. <strong>Heritable allele-specific differences in amounts of apoB and low-density lipoproteins in plasma.</strong> Science 244: 72-76, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2565046/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2565046</a>] [<a href="https://doi.org/10.1126/science.2565046" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2565046">Gavish et al. (1989)</a> used this antibody to identify heterozygotes and detect allele-specific differences in the amount of APOB in the plasma. A family study confirmed that the unequal expression phenotype was inherited in an autosomal dominant manner and was linked to the APOB locus. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2564152+2904569+2565046" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Noting that large-scale genetic cascade screening for familial hypercholesterolemia showed that 15% of LDLR or APOB mutation carriers had LDLC levels below the 75th percentile, <a href="#64" class="mim-tip-reference" title="Huijgen, R., Kindt, I., Fouchier, S. W., Defesche, J. C., Hutten, B. A., Kastelein, J. J. P., Vissers, M. N. <strong>Functionality of sequence variants in the genes coding for the low-density lipoprotein receptor and apolipoprotein B in individuals with inherited hypercholesterolemia.</strong> Hum. Mutat. 31: 752-760, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20506408/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20506408</a>] [<a href="https://doi.org/10.1002/humu.21258" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20506408">Huijgen et al. (2010)</a> proposed 3 criteria for determining pathogenicity of such mutations: mean LDLC greater than the 75th percentile, higher mean LDLC level in untreated than in treated carriers, and higher percentage of medication users in carriers than in noncarriers at screening. Applying these criteria to 46 mutations found in more than 50 untreated adults, 3 of the mutations were determined to be nonpathogenic: 1 in LDLR and 2 in APOB. Nonpathogenicity of the 3 variants was confirmed by segregation analysis. <a href="#64" class="mim-tip-reference" title="Huijgen, R., Kindt, I., Fouchier, S. W., Defesche, J. C., Hutten, B. A., Kastelein, J. J. P., Vissers, M. N. <strong>Functionality of sequence variants in the genes coding for the low-density lipoprotein receptor and apolipoprotein B in individuals with inherited hypercholesterolemia.</strong> Hum. Mutat. 31: 752-760, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20506408/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20506408</a>] [<a href="https://doi.org/10.1002/humu.21258" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20506408">Huijgen et al. (2010)</a> emphasized that novel sequence changes in LDLR and APOB should be interpreted with caution before being incorporated into a cascade screening program. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20506408" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Familial Hypobetalipoproteinemia</em></strong></p><p>
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<a href="#4" class="mim-tip-reference" title="Antonarakis, S. E. <strong>Personal Communication.</strong> Baltimore, Md. 6/1987."None>Antonarakis (1987)</a> and his colleagues identified a missense point mutation in the APOB gene associated with hypobetalipoproteinemia (<a href="/entry/615558">615558</a>). The mutation occurred at a potential site of binding of APOB to LDLR and apparently resulted in interference with the metabolism of apolipoprotein B. The finding of no recombination between the hypobetalipoproteinemia phenotype and a particular DNA haplotype of the APOB gene (<a href="#79" class="mim-tip-reference" title="Leppert, M., Breslow, J. L., Wu, L., Hasstedt, S., O'Connell, P., Lathrop, M., Williams, R. R., White, R., Lalouel, J.-M. <strong>Inference of a molecular defect of apolipoprotein B in hypobetalipoproteinemia by linkage analysis in a large kindred.</strong> J. Clin. Invest. 82: 847-851, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2901434/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2901434</a>] [<a href="https://doi.org/10.1172/JCI113688" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2901434">Leppert et al., 1988</a>) indicated that, at least in the family studied, hypobetalipoproteinemia was the result of a molecular defect in apolipoprotein B. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2901434" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>As indicated in the listing of allelic variants, a number of mutations resulting in a truncated apolipoprotein B have been found as the basis of hypobetalipoproteinemia. Other patients with this disorder have been found to have reduced concentrations of a full-length apoB100 (<a href="#130" class="mim-tip-reference" title="Young, S. G., Bertics, S. J., Curtiss, L. K., Dubois, B. W., Witztum, J. L. <strong>Genetic analysis of a kindred with familial hypobetalipoproteinemia: evidence for two separate gene defects: one associated with an abnormal apolipoprotein B species, apolipoprotein B-37; and a second associated with low plasma concentrations of apolipoprotein B-100.</strong> J. Clin. Invest. 79: 1842-1851, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3473077/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3473077</a>] [<a href="https://doi.org/10.1172/JCI113026" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3473077">Young et al., 1987</a>; <a href="#13" class="mim-tip-reference" title="Berger, G. M. B., Brown, G., Henderson, H. E., Bonnici, F. <strong>Apolipoprotein B detected in the plasma of a patient with homozygous hypobetalipoproteinaemia: implications for aetiology.</strong> J. Med. Genet. 20: 189-195, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6876109/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6876109</a>] [<a href="https://doi.org/10.1136/jmg.20.3.189" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6876109">Berger et al., 1983</a>; <a href="#46" class="mim-tip-reference" title="Gavish, D., Brinton, E. A., Breslow, J. L. <strong>Heritable allele-specific differences in amounts of apoB and low-density lipoproteins in plasma.</strong> Science 244: 72-76, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2565046/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2565046</a>] [<a href="https://doi.org/10.1126/science.2565046" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2565046">Gavish et al., 1989</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6876109+2565046+3473077" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#80" class="mim-tip-reference" title="Linton, M. F., Farese, R. V., Jr., Young, S. G. <strong>Familial hypobetalipoproteinemia.</strong> J. Lipid Res. 34: 521-541, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8496659/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8496659</a>]" pmid="8496659">Linton et al. (1993)</a> tabulated 25 apoB gene mutations associated with familial hypobetalipoproteinemia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8496659" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#98" class="mim-tip-reference" title="Pulai, J. I., Neuman, R. J., Groenewegen, A. W., Wu, J., Schonfeld, G. <strong>Genetic heterogeneity in familial hypobetalipoproteinemia: linkage and non-linkage to the apoB gene in Caucasian families.</strong> Am. J. Med. Genet. 76: 79-86, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9508071/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9508071</a>]" pmid="9508071">Pulai et al. (1998)</a> commented that various truncated forms of apoB have been found to segregate with the FHBL phenotype in more than 30 kindreds. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9508071" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Schonfeld (<a href="#107" class="mim-tip-reference" title="Schonfeld, G. <strong>The hypobetalipoproteinemias.</strong> Annu. Rev. Nutr. 15: 23-34, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8527219/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8527219</a>] [<a href="https://doi.org/10.1146/annurev.nu.15.070195.000323" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8527219">1995</a>, <a href="#108" class="mim-tip-reference" title="Schonfeld, G. <strong>Personal Communication.</strong> St. Louis, Mo. 3/24/1998."None>1998</a>) stated that in all reported kindreds in which the 'hypobeta' trait cosegregated with an apoB truncation, heterozygotes (documented by either protein or genomic DNA analysis) showed the trait. In fasting heterozygotes, there are 2 populations of apoB-containing lipoproteins: those that contain the truncation and those that contain the normal full-length apoB100. The low cholesterol levels are due to the low levels of apoB-containing lipoproteins (VLDL and particularly LDL) that transport most of the cholesterol in plasma. In turn, low levels of apoB are due to low production rates of both mutant and wildtype forms of apoB in heterozygotes. In some cases, there is also enhanced clearance from plasma. Low production of a truncated form is probably due to low levels of the truncation-specifying mRNA. It is not clear why wildtype apoB100 is produced at lower than expected rates in heterozygotes. The truncated forms of apoB are named according to a centile nomenclature. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8527219" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#69" class="mim-tip-reference" title="Kairamkonda, V., Dalzell, M. <strong>Unusual presentation of three siblings with familial heterozygous hypobetalipoproteinaemia.</strong> Europ. J. Pediat. 162: 129-131, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12655413/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12655413</a>] [<a href="https://doi.org/10.1007/s00431-002-1123-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12655413">Kairamkonda and Dalzell (2003)</a> described 3 sibs with vitamin E deficiency and symptoms of malabsorption with documented excessive fecal fat excretion and low cholesterol, apoB, and vitamin E levels. Although the pathogenesis was not established, the authors postulated that the sibs had heterozygous FHBL due to a novel mutation of apoB because of persistent posttherapeutic low cholesterol and apoB levels. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12655413" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#36" class="mim-tip-reference" title="Di Leo, E., Magnolo, L., Lancellotti, S., Croce, L., Visintin, L., Tiribelli, C., Bertolini, S., Calandra, S., Tarugi, P. <strong>Abnormal apolipoprotein B pre-mRNA splicing in patients with familial hypobetalipoproteinemia. (Letter)</strong> J. Med. Genet. 44: 219-224, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17158591/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17158591</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17158591[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmg.2006.046359" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17158591">Di Leo et al. (2007)</a> identified 3 novel splice site mutations of the APOB gene in 4 FHBL patients and analyzed apoB mRNA in the liver of 1 proband and in transfected COS-1 cells in the other probands. The authors determined that all 3 mutations resulted in truncated apoB proteins that were not secreted as constituents of plasma lipoproteins, confirming the pathogenic effect of rare splice site mutations of the APOB gene found in FHBL. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17158591" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 27-year-old woman from a consanguineous French Canadian family, who was diagnosed with FHBL in the first months of life, <a href="#45" class="mim-tip-reference" title="Gangloff, A., Bergeron, J., Couture, P., Martins, R., Hegele, R. A., Gagne, C. <strong>A novel mutation of apolipoprotein B in a French Canadian family with homozygous hypobetalipoproteinemia.</strong> J. Clin. Lipidol. 5: 414-417, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21981844/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21981844</a>] [<a href="https://doi.org/10.1016/j.jacl.2011.06.014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21981844">Gangloff et al. (2011)</a> identified a homozygous truncating mutation in the APOB gene (<a href="#0022">107730.0022</a>). The authors stated that this was the first case of homozygous FHBL in a French Canadian family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21981844" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Apolipoprotein B Allotypes</em></strong></p><p>
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<a href="#2" class="mim-tip-reference" title="Allison, A. C., Blumberg, B. S. <strong>An isoprecipitation reaction distinguishing human serum-protein types.</strong> Lancet 277: 634-637, 1961. Note: Originally Volume I.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13682582/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13682582</a>] [<a href="https://doi.org/10.1016/s0140-6736(61)91654-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13682582">Allison and Blumberg (1961)</a> and <a href="#15" class="mim-tip-reference" title="Blumberg, B. S., Riddell, N. M. <strong>Inherited antigenic differences in human serum beta lipoproteins: a second antiserum.</strong> J. Clin. Invest. 42: 867-875, 1963.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13971876/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13971876</a>] [<a href="https://doi.org/10.1172/JCI104779" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13971876">Blumberg and Riddell (1963)</a> described a polymorphic system including serum beta lipoprotein distinct from that discovered by Berg and Mohr and designated Lp(a) (see <a href="/entry/152200">152200</a>). They detected this by the study of patients who had received multiple transfusions. The first type was called Ag-a; the second was called Ag-b. <a href="#14" class="mim-tip-reference" title="Blumberg, B. S., Alter, H. J., Riddell, N. M., Erlandson, M. <strong>Multiple antigenic specificities of serum lipoproteins detected with sera of transfused patients.</strong> Vox Sang. 9: 128-145, 1964.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14147429/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14147429</a>] [<a href="https://doi.org/10.1111/j.1423-0410.1964.tb03672.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14147429">Blumberg et al. (1964)</a> proposed the symbol LP for lipoprotein. Lower case letters are used for designating different loci (i.e., LPa, LPb, LPc, etc.) and superscript numbers for alleles at the locus (i.e., LPa-1, LPa-2, etc.). Retention of the Ag designation may be advisable to avoid confusion with the Berg type. <a href="#68" class="mim-tip-reference" title="Jackson, L., Falk, C. T., Allen, F. H., Jr., Barr, M. <strong>A possible gene assignment to chromosome 21.</strong> Cytogenet. Cell Genet. 13: 100-102, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4363864/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4363864</a>] [<a href="https://doi.org/10.1159/000130246" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4363864">Jackson et al. (1974)</a> observed a family in which variation of a chromosome 21 appeared to be linked with Ag type. The peak lod score was 2.1 at a recombination fraction of 0.0. <a href="#10" class="mim-tip-reference" title="Berg, K., Beckman, G., Beckman, L. <strong>A search for linkage between the Ag and (dimeric) superoxide dismutase (SOD-1) loci.</strong> Birth Defects Orig. Art. Ser. XI(3): 67-70, 1975. Note: Alternate: Cytogenet. Cell Genet. 14: 237-240, 1975."None>Berg et al. (1975)</a>, on the other hand, found considerable recombination with IPO-A (<a href="/entry/147450">147450</a>), in family studies. IPO-A is known to be on chromosome 21 from hybrid cell studies. <a href="#11" class="mim-tip-reference" title="Berg, K., Hames, C., Dahlen, G., Frick, M. H., Krishan, I. <strong>Genetic variation in serum low density lipoproteins and lipid levels in man.</strong> Proc. Nat. Acad. Sci. 73: 937-940, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/176662/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">176662</a>] [<a href="https://doi.org/10.1073/pnas.73.3.937" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="176662">Berg et al. (1976)</a> showed that serum cholesterol and triglyceride levels were higher in Ag(x-) than in Ag(x+) persons. Thus, a small but significant effect of a single autosomal locus in atherogenesis may have been demonstrated. <a href="#91" class="mim-tip-reference" title="Morganti, G., Beolchini, P. B., Butler, R., Butler-Brunner, E., Vierucci, A. <strong>Contribution to the genetics of serum beta-lipoproteins in man. VIII. Linkage of the Ag(h-i)locus with the Ag(x-y), Ag(a1-d), Ag(c-g), and Ag(t-z) loci.</strong> Humangenetik 30: 341-342, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/176106/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">176106</a>] [<a href="https://doi.org/10.1007/BF00275148" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="176106">Morganti et al. (1975)</a> indicated that there are at least 5 closely linked loci. This serum protein polymorphism was discovered by Blumberg on the basis of his hypothesis that multitransfused patients should have antibodies against polymorphic serum proteins. The Australia antigen was found in the process of the same studies, applying the additional principle that the wider the anthropologic spread of sera tested (e.g., Australian aborigines), the greater the likelihood of finding a polymorphism. Of course, the Australia antigen proved to be not a polymorphism but a viremia--an even more important discovery, as recognized by the Nobel Prize. By this approach, <a href="#16" class="mim-tip-reference" title="Blumberg, B. S. <strong>Personal Communication.</strong> Philadelphia, Penn. 5/16/1978."None>Blumberg (1978)</a> found other apparent polymorphisms that he has not yet fully studied. Allotypic variation in LDL comparable to Ag has been found in most species studied. <a href="#12" class="mim-tip-reference" title="Berg, K., Powell, L. M., Wallis, S. C., Pease, R., Knott, T. J., Scott, J. <strong>Genetic linkage between the antigenic group (Ag) variation and the apolipoprotein B gene: assignment of the Ag locus.</strong> Proc. Nat. Acad. Sci. 83: 7367-7370, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2876424/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2876424</a>] [<a href="https://doi.org/10.1073/pnas.83.19.7367" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2876424">Berg et al. (1986)</a> demonstrated close linkage of the Ag allotypes of LDL and DNA polymorphisms at the APOB locus. Linkage disequilibrium (allelic association) was found between the Ag polymorphism and 2 of the 3 DNA polymorphisms studied. <a href="#127" class="mim-tip-reference" title="Xu, C., Nanjee, N., Tikkanen, M. J., Huttunen, J. K., Pietinen, P., Butler, R., Angelico, F., Del Ben, M., Mazzarella, B., Antonio, R., Miller, N. G., Humphries, S., Talmud, P. J. <strong>Apolipoprotein B amino acid 3611 substitution from arginine to glutamine creates the Ag (h/i) epitope: the polymorphism is not associated with differences in serum cholesterol and apolipoprotein B levels.</strong> Hum. Genet. 82: 322-326, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2472350/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2472350</a>] [<a href="https://doi.org/10.1007/BF00273990" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2472350">Xu et al. (1989)</a> demonstrated that a particular Ag epitope (h/i) is determined by an arginine-to-glutamine substitution at residue 3611 of the mature protein. The amino acid difference results from a CGG-to-CAG change and causes loss of an MspI restriction site. <a href="#21" class="mim-tip-reference" title="Breguet, G., Butler, R., Butler-Brunner, E., Sanchez-Mazas, A. <strong>A worldwide population study of the Ag-system haplotypes: a genetic polymorphism of human low-density lipoprotein.</strong> Am. J. Hum. Genet. 46: 502-517, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1689953/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1689953</a>]" pmid="1689953">Breguet et al. (1990)</a> found that, with the exception of the Amerindians, the Ag system is highly polymorphic in populations worldwide. They suggested that the system has evolved as a neutral or nearly-neutral polymorphism and is therefore highly informative for 'modern human peopling history' studies. Following the cloning of the human APOB gene, nucleotide substitutions were reported as candidates for the molecular basis of all the Ag epitopes (reviewed by <a href="#37" class="mim-tip-reference" title="Dunning, A. M., Renges, H.-H., Xu, C.-F., Peacock, R., Brasseur, R., Laxer, G., Tikkanen, M. J., Butler, R., Saha, N., Hamsten, A., Rosseneu, M., Talmud, P., Humphries, S. E. <strong>Two amino acid substitutions in apolipoprotein B are in complete allelic association with the antigen group (x/y) polymorphism: evidence for little recombination in the 3-prime end of the human gene.</strong> Am. J. Hum. Genet. 50: 208-221, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1370364/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1370364</a>]" pmid="1370364">Dunning et al., 1992</a>). <a href="#37" class="mim-tip-reference" title="Dunning, A. M., Renges, H.-H., Xu, C.-F., Peacock, R., Brasseur, R., Laxer, G., Tikkanen, M. J., Butler, R., Saha, N., Hamsten, A., Rosseneu, M., Talmud, P., Humphries, S. E. <strong>Two amino acid substitutions in apolipoprotein B are in complete allelic association with the antigen group (x/y) polymorphism: evidence for little recombination in the 3-prime end of the human gene.</strong> Am. J. Hum. Genet. 50: 208-221, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1370364/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1370364</a>]" pmid="1370364">Dunning et al. (1992)</a> found complete linkage disequilibrium between the immunochemical polymorphism of LDL that is designated antigen group Ag(x/y) and the alleles at 2 sites in the mature apoB100 molecule: pro2712-to-leu and asn4311-to-ser. It appeared that the Ag(y) epitope was associated with asparagine-4311 plus proline-2712, whereas the allele encoding serine-4311 plus leucine-2712 represented the Ag(x) epitope. In 4 different population groups, they found complete association between the sites encoding residues 2712 and 4311, although there were large allele frequency differences between these populations. In addition, there was strong linkage disequilibrium with allelic association between the alleles of these sites and those of the XbaI RFLP in all populations examined. Taken together, these data suggest that there has been little or no recombination in the 3-prime end of the human APOB gene since the divergence of the major ethnic groups. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1370364+1689953+13971876+14147429+176106+176662+4363864+2876424+13682582+2472350" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Data on gene frequencies of allelic variants were tabulated by <a href="#103" class="mim-tip-reference" title="Roychoudhury, A. K., Nei, M. <strong>Human Polymorphic Genes: World Distribution.</strong> New York: Oxford Univ. Press (pub.) 1988."None>Roychoudhury and Nei (1988)</a>.</p>
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<p><a href="#101" class="mim-tip-reference" title="Rapacz, J., Hasler-Rapacz, J., Taylor, K. M., Checovich, W. J., Attie, A. D. <strong>Lipoprotein mutations in pigs are associated with elevated plasma cholesterol and atherosclerosis.</strong> Science 234: 1573-1577, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3787263/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3787263</a>] [<a href="https://doi.org/10.1126/science.3787263" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3787263">Rapacz et al. (1986)</a> described a strain of pigs bearing 3 immunogenetically defined lipoprotein-associated markers (allotypes) associated with marked hypercholesterolemia despite a low-fat, cholesterol-free diet. LDL receptor activity was normal. By 7 months of age the animals had extensive atherosclerotic lesions in all 3 coronary arteries. One of the 3 variant apolipoproteins was apolipoprotein B. The identity of the other 2 apolipoproteins was not clear, although one was a component of low density lipoprotein and was genetically linked to the variant identified with apolipoprotein B. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3787263" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#56" class="mim-tip-reference" title="Homanics, G. E., Smith, T. J., Zhang, S. H., Lee, D., Young, S. G., Maeda, N. <strong>Targeted modification of the apolipoprotein B gene results in hypobetalipoproteinemia and developmental abnormalities in mice.</strong> Proc. Nat. Acad. Sci. 90: 2389-2393, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8460149/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8460149</a>] [<a href="https://doi.org/10.1073/pnas.90.6.2389" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8460149">Homanics et al. (1993)</a> used gene targeting to generate a mouse model of hypobetalipoproteinemia. Mice carrying the disrupted Apob gene synthesized apoB48 and a truncated apoB (apoB70) but no apoB100. In addition to having a lipoprotein phenotype remarkably similar to familial hypobetalipoproteinemia in humans, these mice also exhibited exencephalus and hydrocephalus. <a href="#63" class="mim-tip-reference" title="Huang, L.-S., Voyiaziakis, E., Markenson, D. F., Sokol, K. A., Hayek, T., Breslow, J. L. <strong>apo B gene knockout in mice results in embryonic lethality in homozygotes and neural tube defects, male infertility, and reduced HDL cholesterol ester and apo A-1 transport rates in heterozygotes.</strong> J. Clin. Invest. 96: 2152-2161, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7593600/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7593600</a>] [<a href="https://doi.org/10.1172/JCI118269" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7593600">Huang et al. (1995)</a> likewise generated APOB gene knockout mice by targeting the gene in embryonic stem cells. Homozygous deficiency led to embryonic lethality, with resorption of all embryos by gestational day 9. Heterozygotes showed an increased tendency to intrauterine death with some fetuses having incomplete neural tube closure and some liveborn heterozygotes developing hydrocephalus. Most heterozygous males were sterile, although the GU system and sperm were grossly normal. Viable heterozygotes had normal triglycerides, but total LDL and HDL cholesterol levels were decreased by 37, 37, and 39%, respectively. Hepatic and intestinal APOB mRNA levels were decreased in heterozygotes. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7593600+8460149" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#24" class="mim-tip-reference" title="Callow, M. J., Verstuyft, J., Tangirala, R., Palinski, W., Rubin, E. M. <strong>Atherogenesis in transgenic mice with human apolipoprotein B and lipoprotein(a).</strong> J. Clin. Invest. 96: 1639-1646, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7657833/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7657833</a>] [<a href="https://doi.org/10.1172/JCI118203" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7657833">Callow et al. (1995)</a> noted that the engineering of mice that express a human APOB transgene results in animals with high levels of human-like LDL particles. Additionally, through crosses with transgenics for the human LPA gene, high levels of human-like lipoprotein(a) particles are seen. <a href="#24" class="mim-tip-reference" title="Callow, M. J., Verstuyft, J., Tangirala, R., Palinski, W., Rubin, E. M. <strong>Atherogenesis in transgenic mice with human apolipoprotein B and lipoprotein(a).</strong> J. Clin. Invest. 96: 1639-1646, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7657833/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7657833</a>] [<a href="https://doi.org/10.1172/JCI118203" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7657833">Callow et al. (1995)</a> found that such mice demonstrated marked increases in apoB and LDL, resulting in atherosclerotic lesions extending down the aorta that resembled human lesions immunochemically. The findings suggested to the authors that APO(a) associated with apo(B) and lipid may result in a more pro-atherogenic state than when APO(a) is free in plasma. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7657833" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#62" class="mim-tip-reference" title="Huang, L.-S., Voyiaziakis, E., Chen, H. L., Rubin, E. M., Gordon, J. W. <strong>A novel functional role for apolipoprotein B in male infertility in heterozygous apolipoprotein B knockout mice.</strong> Proc. Nat. Acad. Sci. 93: 10903-10907, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8855280/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8855280</a>] [<a href="https://doi.org/10.1073/pnas.93.20.10903" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8855280">Huang et al. (1996)</a> found that male mice heterozygous for targeted mutation of the ApoB gene exhibit severely compromised fertility. Sperm from these mice fail to fertilize eggs both in vitro and in vivo. However, these sperm were able to fertilize eggs once the zona pellucida was removed but displayed persistent abnormal binding to the egg after fertilization. In vitro fertilization-related and other experiments revealed reduced sperm motility, survival time, and sperm count also contributed to the infertility phenotype. Recognition of the infertility phenotype led to the identification of ApoB mRNA in the testes and epididymides of normal mice, and these transcripts were substantially reduced in the mutant animal. Moreover, when the genomic sequence encoding human ApoB was introduced into these animals, normal fertility was restored. The findings of <a href="#62" class="mim-tip-reference" title="Huang, L.-S., Voyiaziakis, E., Chen, H. L., Rubin, E. M., Gordon, J. W. <strong>A novel functional role for apolipoprotein B in male infertility in heterozygous apolipoprotein B knockout mice.</strong> Proc. Nat. Acad. Sci. 93: 10903-10907, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8855280/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8855280</a>] [<a href="https://doi.org/10.1073/pnas.93.20.10903" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8855280">Huang et al. (1996)</a> suggested that APOB may have an important impact on male fertility and identified a previously unrecognized function of ApoB. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8855280" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>To provide models for understanding the physiologic purpose for the 2 forms of apoB (B100 and B48), <a href="#39" class="mim-tip-reference" title="Farese, R. V., Jr., Veniant, M. M., Cham, C. M., Flynn, L. M., Pierotti, V., Loring, J. F., Traber, M., Ruland, S., Stokowski, R. S., Huszar, D., Young, S. G. <strong>Phenotypic analysis of mice expressing exclusively apolipoprotein B48 or apolipoprotein B100.</strong> Proc. Nat. Acad. Sci. 93: 6393-6398, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8692825/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8692825</a>] [<a href="https://doi.org/10.1073/pnas.93.13.6393" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8692825">Farese et al. (1996)</a> used targeted mutagenesis of the APOB gene to generate mice that synthesized apoB48 exclusively and mice that synthesized apoB100 exclusively. The B48-only and B100-only mice were produced by introducing into mouse ES cells stop and nonstop mutations, respectively, in the apoB48 editing codon (codon 2153) of the mouse Apob gene. Both types of mice developed normally, were healthy, and were fertile. Thus, apoB48 synthesis sufficed for normal embryonic development, and the synthesis of apoB100 in the intestine adult mice caused no readily apparent adverse effects on intestinal function or nutrition. Compared with wildtype mice fed the same diet, the levels of LDL cholesterol and VLDL and LPL triacylglycerols were lower in the B48-only mice and higher in the B100-only mice. <a href="#39" class="mim-tip-reference" title="Farese, R. V., Jr., Veniant, M. M., Cham, C. M., Flynn, L. M., Pierotti, V., Loring, J. F., Traber, M., Ruland, S., Stokowski, R. S., Huszar, D., Young, S. G. <strong>Phenotypic analysis of mice expressing exclusively apolipoprotein B48 or apolipoprotein B100.</strong> Proc. Nat. Acad. Sci. 93: 6393-6398, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8692825/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8692825</a>] [<a href="https://doi.org/10.1073/pnas.93.13.6393" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8692825">Farese et al. (1996)</a> stated that in the setting of apo-E deficiency, the B100-only mutation lowered cholesterol levels, consistent with the fact that B100-lipoproteins can be cleared from the plasma via the LDL receptor, whereas B48-lipoproteins lacking apo-E cannot. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8692825" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#20" class="mim-tip-reference" title="Boren, J., Lee, I., Zhu, W., Arnold, K., Taylor, S., Innerarity, T. L. <strong>Identification of the low density lipoprotein receptor-binding site in apolipoprotein B100 and the modulation of its binding activity by the carboxyl terminus in familial defective apo-B100.</strong> J. Clin. Invest. 101: 1084-1093, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9486979/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9486979</a>] [<a href="https://doi.org/10.1172/JCI1847" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9486979">Boren et al. (1998)</a> expressed mutant forms of human apoB in transgenic mice, purified the resulting human recombinant LDL, and tested for their receptor-binding activity. They showed that amino acids 3359 to 3369 bind to the LDL receptor and that arginine-3500 is not directly involved in receptor binding. However, the C-terminal 20% of apoB100 is necessary for the R3500Q mutation to disrupt receptor binding, since removal of the C terminus in familial defective apoB100 (FDB) LDL resulted in normal receptor-binding activity. Similarly, removal of the C terminus of apoB100 on receptor-inactive VLDL dramatically increased apoB-mediated receptor-binding activity. <a href="#20" class="mim-tip-reference" title="Boren, J., Lee, I., Zhu, W., Arnold, K., Taylor, S., Innerarity, T. L. <strong>Identification of the low density lipoprotein receptor-binding site in apolipoprotein B100 and the modulation of its binding activity by the carboxyl terminus in familial defective apo-B100.</strong> J. Clin. Invest. 101: 1084-1093, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9486979/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9486979</a>] [<a href="https://doi.org/10.1172/JCI1847" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9486979">Boren et al. (1998)</a> proposed that the C terminus normally functions to inhibit the interaction of apoB100 VLDL with the LDL receptor, but after the conversion of triglyceride-rich VLDL to smaller cholesterol-rich LDL, arginine-3500 interacts with the C terminus, permitting normal interaction between LDL and its receptor. Moreover, the loss of arginine at this site destabilizes this interaction, resulting in receptor-binding defective LDL. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9486979" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#111" class="mim-tip-reference" title="Skalen, K., Gustafsson, M., Rydberg, E. K., Hulten, L. M., Wiklund, O., Innerarity, T. L., Boren, J. <strong>Subendothelial retention of atherogenic lipoproteins in early atherosclerosis.</strong> Nature 417: 750-754, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12066187/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12066187</a>] [<a href="https://doi.org/10.1038/nature00804" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12066187">Skalen et al. (2002)</a> created transgenic mice expressing 5 types of human recombinant LDL, fed them an atherogenic diet for 20 weeks, and quantitated the extent of atherosclerosis. They used these models to test the hypothesis that the subendothelial retention of atherogenic apoB-containing lipoproteins is the initiating event in atherogenesis. The extracellular matrix of the subendothelium, particularly proteoglycans, is thought to play a major role in the retention of atherogenic lipoproteins. The interaction between atherogenic lipoproteins and proteoglycans involves an ionic interaction between basic amino acids in apoB100 and negatively-charged sulfate groups on the proteoglycans. <a href="#111" class="mim-tip-reference" title="Skalen, K., Gustafsson, M., Rydberg, E. K., Hulten, L. M., Wiklund, O., Innerarity, T. L., Boren, J. <strong>Subendothelial retention of atherogenic lipoproteins in early atherosclerosis.</strong> Nature 417: 750-754, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12066187/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12066187</a>] [<a href="https://doi.org/10.1038/nature00804" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12066187">Skalen et al. (2002)</a> presented direct experimental evidence that the atherogenicity of apoB-containing low-density lipoproteins is linked to their affinity for artery wall proteoglycans. Mice expressing proteoglycan-binding-defective LDL developed significantly less atherosclerosis than mice expressing wildtype control LDL. <a href="#111" class="mim-tip-reference" title="Skalen, K., Gustafsson, M., Rydberg, E. K., Hulten, L. M., Wiklund, O., Innerarity, T. L., Boren, J. <strong>Subendothelial retention of atherogenic lipoproteins in early atherosclerosis.</strong> Nature 417: 750-754, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12066187/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12066187</a>] [<a href="https://doi.org/10.1038/nature00804" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12066187">Skalen et al. (2002)</a> concluded that subendothelial retention of apoB100-containing lipoprotein is an early step in atherogenesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12066187" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In order to demonstrate the therapeutic potential of short interfering RNAs (siRNAs), <a href="#113" class="mim-tip-reference" title="Soutschek, J., Akinc, A., Bramlage, B., Charisse, K., Constien, R., Donoghue, M., Elbashir, S., Geick, A., Hadwiger, P., Harborth, J., John, M., Kesavan, V., and 13 others. <strong>Therapeutic silencing of an endogenous gene by systemic administration of modified siRNAs.</strong> Nature 432: 173-178, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15538359/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15538359</a>] [<a href="https://doi.org/10.1038/nature03121" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15538359">Soutschek et al. (2004)</a> demonstrated that chemically modified siRNAs can silence an endogenous gene encoding apoB after intravenous injection in mice. Administration of chemically modified siRNAs resulted in silencing of the apoB mRNA in liver and jejunum, decreased plasma levels of apoB protein, and reduced total cholesterol. <a href="#113" class="mim-tip-reference" title="Soutschek, J., Akinc, A., Bramlage, B., Charisse, K., Constien, R., Donoghue, M., Elbashir, S., Geick, A., Hadwiger, P., Harborth, J., John, M., Kesavan, V., and 13 others. <strong>Therapeutic silencing of an endogenous gene by systemic administration of modified siRNAs.</strong> Nature 432: 173-178, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15538359/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15538359</a>] [<a href="https://doi.org/10.1038/nature03121" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15538359">Soutschek et al. (2004)</a> also showed that these siRNAs could silence human apoB in a transgenic mouse model. In their in vivo study, the mechanism of action for the siRNAs was proven to occur through RNA interference (RNAi)-mediated mRNA degradation, and <a href="#113" class="mim-tip-reference" title="Soutschek, J., Akinc, A., Bramlage, B., Charisse, K., Constien, R., Donoghue, M., Elbashir, S., Geick, A., Hadwiger, P., Harborth, J., John, M., Kesavan, V., and 13 others. <strong>Therapeutic silencing of an endogenous gene by systemic administration of modified siRNAs.</strong> Nature 432: 173-178, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15538359/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15538359</a>] [<a href="https://doi.org/10.1038/nature03121" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15538359">Soutschek et al. (2004)</a> determined that cleavage of the apoB mRNA occurred specifically at the predicted site. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15538359" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#38" class="mim-tip-reference" title="Espinosa-Heidmann, D. G., Sall, J., Hernandez, E. P., Cousins, S. W. <strong>Basal laminar deposit formation in APO B100 transgenic mice: complex interactions between dietary fat, blue light, and vitamin E.</strong> Invest. Ophthal. Vis. Sci. 45: 260-266, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14691182/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14691182</a>] [<a href="https://doi.org/10.1167/iovs.03-0910" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14691182">Espinosa-Heidmann et al. (2004)</a> studied the development of basal laminar deposits in the eyes of transgenic mice that overexpressed apoB100. The mice were fed a high-fat diet, and their eyes were exposed to blue-green laser light. The results suggested that age and high-fat diet predisposed to the formation of basal laminar deposits by altering hepatic and/or retinal pigment epithelial lipid metabolism in ways more complicated than plasma hyperlipidemia alone. Vitamin E-treated mice showed minimal formation of basal laminar deposits. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14691182" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In the eyes of transgenic mice overexpressing human apoB100 in the RPE, <a href="#43" class="mim-tip-reference" title="Fujihara, M., Bartels, E., Nielsen, L. B., Handa, J. T. <strong>A human apoB100 transgenic mouse expresses human apoB100 in the RPE and develops features of early AMD.</strong> Exp. Eye Res. 88: 1115-1123, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19450445/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19450445</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19450445[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.exer.2009.01.017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19450445">Fujihara et al. (2009)</a> observed ultrastructural changes consistent with early human age-related macular degeneration (ARMD) (see <a href="/entry/603075">603075</a>), including loss of basal infoldings and accumulation of cytoplasmic vacuoles in the RPE and basal laminar deposits containing long-spacing collagen and heterogeneous debris in Bruch membrane. In apoB100 mice given a high-fat diet, basal linear-like deposits were identified in 12-month-old mice. Linear regression analysis showed that the genotype was a stronger influencing factor than high-fat diet in producing ARMD-like lesions. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19450445" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0001 HYPOBETALIPOPROTEINEMIA, FAMILIAL</strong>
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<p>In a patient with hypobetalipoproteinemia (<a href="/entry/615558">615558</a>) and small amounts of a truncated apoB protein (B37) in VLDL, LDL, and HDL fractions of the plasma, Young et al. (<a href="#130" class="mim-tip-reference" title="Young, S. G., Bertics, S. J., Curtiss, L. K., Dubois, B. W., Witztum, J. L. <strong>Genetic analysis of a kindred with familial hypobetalipoproteinemia: evidence for two separate gene defects: one associated with an abnormal apolipoprotein B species, apolipoprotein B-37; and a second associated with low plasma concentrations of apolipoprotein B-100.</strong> J. Clin. Invest. 79: 1842-1851, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3473077/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3473077</a>] [<a href="https://doi.org/10.1172/JCI113026" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3473077">1987</a>, <a href="#135" class="mim-tip-reference" title="Young, S. G., Northey, S. T., McCarthy, B. J. <strong>Low plasma cholesterol levels caused by a short deletion in the apolipoprotein B gene.</strong> Science 241: 591-593, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3399894/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3399894</a>] [<a href="https://doi.org/10.1126/science.3399894" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3399894">1988</a>) found deletion of 4 nucleotides (5391_5394del4) resulting in a frameshift causing change of asn1728 to thr (N1728T) and ser1729 to stop (S1729X). The truncated apoB protein contained 1,728 amino acids. This was one of the mutant alleles in the family with hypobetalipoproteinemia first reported by <a href="#114" class="mim-tip-reference" title="Steinberg, D., Grundy, S. M., Mok, H. Y. I., Turner, J. D., Weinstein, D. B., Brown, W. V., Albers, J. J. <strong>Metabolic studies in an unusual case of asymptomatic familial hypobetalipoproteinemia with hypoalphalipoproteinemia and fasting chylomicronemia.</strong> J. Clin. Invest. 64: 292-301, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/221546/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">221546</a>] [<a href="https://doi.org/10.1172/JCI109451" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="221546">Steinberg et al. (1979)</a>. <a href="#81" class="mim-tip-reference" title="Linton, M. F., Pierotti, V., Young, S. G. <strong>Reading-frame restoration with an apolipoprotein B gene frameshift mutation.</strong> Proc. Nat. Acad. Sci. 89: 11431-11435, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1454832/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1454832</a>] [<a href="https://doi.org/10.1073/pnas.89.23.11431" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1454832">Linton et al. (1992)</a> investigated the reason for the curious finding that low levels of apoB100 were produced by the mutant allele carrying this mutation. The clue that led to the understanding of what was going on with this allele was the recognition that the proband in the family, H.J.B., as well as the other 2 compound heterozygotes, actually had 4 bona fide apoB species within their plasma lipoproteins: apoB37, apoB48, apoB100, and apoB86. <a href="#81" class="mim-tip-reference" title="Linton, M. F., Pierotti, V., Young, S. G. <strong>Reading-frame restoration with an apolipoprotein B gene frameshift mutation.</strong> Proc. Nat. Acad. Sci. 89: 11431-11435, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1454832/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1454832</a>] [<a href="https://doi.org/10.1073/pnas.89.23.11431" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1454832">Linton et al. (1992)</a> demonstrated that the apoB86 and apoB100 were products of a single mutant apoB allele, which they designated the apoB86 allele. They showed that this allele has a 1-bp deletion in exon 26 of the APOB gene (<a href="#0016">107730.0016</a>) and that this frameshift is responsible for the synthesis of apoB86. Nevertheless, as shown by cell culture expression studies, the apoB86 allele, which contains a premature stop codon, results in the synthesis of a full-length apoB protein. The 1-bp deletion creates a stretch of 8 consecutive adenines. Addition of a single adenine within the 8 consecutive adenines appears to take place during transcription, restoring the correct reading frame and accounting for the formation of apoB100 by the apoB86 allele. Eleven percent of the cDNA clones had an additional adenine within the stretch of 8 adenines. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3399894+1454832+221546+3473077" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0002 HYPOBETALIPOPROTEINEMIA, FAMILIAL, ASSOCIATED WITH APOB39</strong>
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APOB, 1-BP DEL, FS1799TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs397514255 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397514255;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs397514255?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs397514255" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs397514255" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000019471" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019471" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019471</a>
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<p><a href="#30" class="mim-tip-reference" title="Collins, D. R., Knott, T. J., Pease, R. J., Powell, L. M., Wallis, S. C., Robertson, S., Pullinger, C. R., Milne, R. W., Marcel, Y. L., Humphries, S. E., Talmud, P. J., Lloyd, J. K., Miller, N. E., Muller, D., Scott, J. <strong>Truncated variants of apolipoprotein B cause hypobetalipoproteinaemia.</strong> Nucleic Acids Res. 16: 8361-8375, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2843815/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2843815</a>] [<a href="https://doi.org/10.1093/nar/16.17.8361" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2843815">Collins et al. (1988)</a> described a truncated apoB protein due to deletion of a single guanine nucleotide from leucine codon 1794, resulting in a frameshift and a stop codon after codon 1799, as a cause of familial hypobetalipoproteinemia (<a href="/entry/615558">615558</a>). The truncated protein was referred to as apoB39. The mutation occurred in a CpG dinucleotide. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2843815" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0003 HYPOBETALIPOPROTEINEMIA, FAMILIAL</strong>
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APOB, ARG1306TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121918383 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918383;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121918383?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121918383" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121918383" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000019472 OR RCV001851946 OR RCV003225024" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019472, RCV001851946, RCV003225024" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019472...</a>
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<p>A second truncated variant of apoB found in familial hypobetalipoproteinemia (<a href="/entry/615558">615558</a>) by <a href="#30" class="mim-tip-reference" title="Collins, D. R., Knott, T. J., Pease, R. J., Powell, L. M., Wallis, S. C., Robertson, S., Pullinger, C. R., Milne, R. W., Marcel, Y. L., Humphries, S. E., Talmud, P. J., Lloyd, J. K., Miller, N. E., Muller, D., Scott, J. <strong>Truncated variants of apolipoprotein B cause hypobetalipoproteinaemia.</strong> Nucleic Acids Res. 16: 8361-8375, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2843815/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2843815</a>] [<a href="https://doi.org/10.1093/nar/16.17.8361" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2843815">Collins et al. (1988)</a> had a change of arginine codon 1306, converting it to a stop codon and resulting in a protein of 1,305 residues which, however, could not be detected in the circulation. This mutation was a C-to-T transition in a CpG dinucleotide. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2843815" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 HYPOBETALIPOPROTEINEMIA, FAMILIAL, ASSOCIATED WITH APOB40</strong>
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APOB, VAL1829CYS
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121918384 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918384;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121918384?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121918384" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121918384" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000019473 OR RCV002513122" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019473, RCV002513122" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019473...</a>
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<p><a href="#74" class="mim-tip-reference" title="Krul, E. S., Kinoshita, M., Talmud, P., Humphries, S. E., Turner, S., Goldberg, A. C., Cook, K., Boerwinkle, E., Schonfeld, G. <strong>Two distinct truncated apolipoprotein B species in a kindred with hypobetalipoproteinemia.</strong> Arteriosclerosis 9: 856-868, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2574033/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2574033</a>] [<a href="https://doi.org/10.1161/01.atv.9.6.856" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2574033">Krul et al. (1989)</a> found 2 distinct truncated apoB proteins, apoB40 and apoB90, in a kindred with hypobetalipoproteinemia (<a href="/entry/615558">615558</a>). <a href="#118" class="mim-tip-reference" title="Talmud, P., King-Underwood, L., Krul, E., Schonfeld, G., Humphries, S. <strong>The molecular basis of truncated forms of apolipoprotein B in a kindred with compound heterozygous hypobetalipoproteinemia.</strong> J. Lipid Res. 30: 1773-1779, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2614276/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2614276</a>]" pmid="2614276">Talmud et al. (1989)</a> showed that the molecular basis was deletion of 2 nucleotides converting val1829 to cys and codon 1830 to stop. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2574033+2614276" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0005" class="mim-anchor"></a>
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<strong>.0005 HYPOBETALIPOPROTEINEMIA, FAMILIAL, ASSOCIATED WITH APOB90 OR APOB89</strong>
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APOB, GLU4034ARG
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121918385 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918385;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121918385" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121918385" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000019474" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019474" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019474</a>
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<p>See <a href="#74" class="mim-tip-reference" title="Krul, E. S., Kinoshita, M., Talmud, P., Humphries, S. E., Turner, S., Goldberg, A. C., Cook, K., Boerwinkle, E., Schonfeld, G. <strong>Two distinct truncated apolipoprotein B species in a kindred with hypobetalipoproteinemia.</strong> Arteriosclerosis 9: 856-868, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2574033/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2574033</a>] [<a href="https://doi.org/10.1161/01.atv.9.6.856" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2574033">Krul et al. (1989)</a>. The molecular basis of familial hypobetalipoproteinemia (<a href="/entry/615558">615558</a>) was deletion of 1 nucleotide in glutamic acid codon 4034 converting that codon to arginine and causing a frameshift with a stop codon at position 4040 (<a href="#118" class="mim-tip-reference" title="Talmud, P., King-Underwood, L., Krul, E., Schonfeld, G., Humphries, S. <strong>The molecular basis of truncated forms of apolipoprotein B in a kindred with compound heterozygous hypobetalipoproteinemia.</strong> J. Lipid Res. 30: 1773-1779, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2614276/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2614276</a>]" pmid="2614276">Talmud et al., 1989</a>). <a href="#95" class="mim-tip-reference" title="Parhofer, K. G., Barrett, P. H. R., Bier, D. M., Schonfeld, G. <strong>Lipoproteins containing the truncated apolipoprotein, apoB-89, are cleared from human plasma more rapidly than apoB-100-containing lipoproteins in vivo.</strong> J. Clin. Invest. 89: 1931-1937, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1602000/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1602000</a>] [<a href="https://doi.org/10.1172/JCI115799" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1602000">Parhofer et al. (1992)</a> showed that enhanced catabolism of VLDL, IDL, and LDL particles containing the truncated apolipoprotein is responsible for the relatively low levels of apoB89 seen in these subjects. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1602000+2574033+2614276" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0006 HYPOBETALIPOPROTEINEMIA, FAMILIAL, ASSOCIATED WITH APOB46</strong>
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APOB, ARG2058TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121918386 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918386;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121918386?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121918386" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121918386" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000019476 OR RCV001093352 OR RCV001181782 OR RCV001851947" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019476, RCV001093352, RCV001181782, RCV001851947" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019476...</a>
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<p><a href="#133" class="mim-tip-reference" title="Young, S. G., Hubl, S. T., Chappell, D. A., Smith, R. S., Claiborne, F., Snyder, S. M., Terdiman, J. F. <strong>Familial hypobetalipoproteinemia associated with a mutant species of apolipoprotein B (B-46).</strong> New Eng. J. Med. 320: 1604-1610, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2725600/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2725600</a>] [<a href="https://doi.org/10.1056/NEJM198906153202407" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2725600">Young et al. (1989)</a> characterized an apoB gene mutation in a kindred with familial hypobetalipoproteinemia (<a href="/entry/615558">615558</a>). Six members of the family had low plasma apoB and LDL cholesterol levels, and each was shown to be heterozygous for a mutant apoB allele that yielded a unique truncated species of apoB, namely apoB46, with only 2,037 amino acids. They further showed that apoB46 is caused by the substitution of T for C at apoB cDNA nucleotide 6381, resulting in a nonsense mutation. The change occurred in a CG dinucleotide. A C-to-T transition in the APOB gene was responsible for hypobetalipoproteinemia in one of the families studied by <a href="#30" class="mim-tip-reference" title="Collins, D. R., Knott, T. J., Pease, R. J., Powell, L. M., Wallis, S. C., Robertson, S., Pullinger, C. R., Milne, R. W., Marcel, Y. L., Humphries, S. E., Talmud, P. J., Lloyd, J. K., Miller, N. E., Muller, D., Scott, J. <strong>Truncated variants of apolipoprotein B cause hypobetalipoproteinaemia.</strong> Nucleic Acids Res. 16: 8361-8375, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2843815/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2843815</a>] [<a href="https://doi.org/10.1093/nar/16.17.8361" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2843815">Collins et al. (1988)</a>. Like CETP deficiency (<a href="/entry/143470">143470</a>), this appears to be an antiatherogenic mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2725600+2843815" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0007 HYPOBETALIPOPROTEINEMIA, FAMILIAL, ASSOCIATED WITH APOB87</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs387906569 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906569;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs387906569?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs387906569" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs387906569" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000019477" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019477" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019477</a>
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<p>In a family segregating hypobetalipoproteinemia (<a href="/entry/615558">615558</a>), <a href="#44" class="mim-tip-reference" title="Gabelli, C., Bilato, C., Martini, S., Tennyson, G. E., Zech, L. A., Corsini, A., Albanese, M., Brewer, H. B., Jr., Crepaldi, G., Baggio, G. <strong>Homozygous familial hypobetalipoproteinemia: increased LDL catabolism in hypobetalipoproteinemia due to a truncated apolipoprotein B species, apo B-87-Padova.</strong> Arterioscler. Thromb. Vasc. Biol. 16: 1189-1196, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8792774/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8792774</a>] [<a href="https://doi.org/10.1161/01.atv.16.9.1189" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8792774">Gabelli et al. (1996)</a> identified 2 sibs who were homozygous for a 1-bp deletion in the APOB gene (12032delG), causing a frameshift and termination at amino acid 3978. The truncated apoB form was designated apoB-87-Padova. Although the 2 homozygous members had only trace amounts of low density lipoprotein, they were virtually free from symptoms typical of homozygous FHBL subjects. Seven members of the family who were heterozygous for the mutation were asymptomatic, with LDL cholesterol concentrations corresponding to about 50% of normal values. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8792774" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0008 HYPOBETALIPOPROTEINEMIA, FAMILIAL, ASSOCIATED WITH APOB31</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs397514256 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397514256;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs397514256?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs397514256" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs397514256" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000019478" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019478" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019478</a>
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<p><a href="#134" class="mim-tip-reference" title="Young, S. G., Hubl, S. T., Smith, R. S., Snyder, S. M., Terdiman, J. F. <strong>Familial hypobetalipoproteinemia caused by a mutation in the apolipoprotein B gene that results in a truncated species of apolipoprotein B (B-31): a unique mutation that helps to define the portion of the apolipoprotein B molecule required for the formation of buoyant, triglyceride-rich lipoproteins.</strong> J. Clin. Invest. 85: 933-942, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2312735/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2312735</a>] [<a href="https://doi.org/10.1172/JCI114522" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2312735">Young et al. (1990)</a> identified a mutation of the APOB gene that resulted in formation of a truncated apoB species, apoB31, as a cause of familial hypobetalipoproteinemia. The mutation consisted of deletion of a single guanine residue which caused a frameshift and a premature termination with formation of a protein predicted to contain 1,425 amino acids. This is the shortest of the mutant apoB species identified in the plasma of subjects with hypobetalipoproteinemia. In contrast to the longer truncated proteins, apoB31 was undetectable in VLDL and LDL but was present in the HDL fraction and in the lipoprotein-deficient fraction of the plasma. This mutation was found in the course of studying the apoB46 mutant (<a href="#133" class="mim-tip-reference" title="Young, S. G., Hubl, S. T., Chappell, D. A., Smith, R. S., Claiborne, F., Snyder, S. M., Terdiman, J. F. <strong>Familial hypobetalipoproteinemia associated with a mutant species of apolipoprotein B (B-46).</strong> New Eng. J. Med. 320: 1604-1610, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2725600/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2725600</a>] [<a href="https://doi.org/10.1056/NEJM198906153202407" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2725600">Young et al., 1989</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2725600+2312735" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0009 HYPERCHOLESTEROLEMIA, FAMILIAL, 2</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs5742904 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs5742904;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs5742904?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs5742904" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs5742904" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000019479 OR RCV000254882 OR RCV000412515 OR RCV000499833 OR RCV000771116 OR RCV000844612 OR RCV000851289 OR RCV001837437 OR RCV002399330 OR RCV004528126 OR RCV004584331" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019479, RCV000254882, RCV000412515, RCV000499833, RCV000771116, RCV000844612, RCV000851289, RCV001837437, RCV002399330, RCV004528126, RCV004584331" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019479...</a>
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<p>By extensive sequence analysis of the 2 alleles of the APOB gene in a man with moderate hypercholesterolemia (FHCL2; <a href="/entry/144010">144010</a>), who was originally reported by <a href="#123" class="mim-tip-reference" title="Vega, G. L., Grundy, S. M. <strong>In vivo evidence for reduced binding of low density lipoproteins to receptors as a cause of primary moderate hypercholesterolemia.</strong> J. Clin. Invest. 78: 1410-1414, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3771801/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3771801</a>] [<a href="https://doi.org/10.1172/JCI112729" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3771801">Vega and Grundy (1986)</a> and was found to be heterozygous for familial defective apolipoprotein by <a href="#66" class="mim-tip-reference" title="Innerarity, T. L., Weisgraber, K. H., Arnold, K. S., Mahley, R. W., Krauss, R. M., Vega, G. L., Grundy, S. M. <strong>Familial defective apolipoprotein B-100: low density lipoproteins with abnormal receptor binding.</strong> Proc. Nat. Acad. Sci. 84: 6919-6923, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3477815/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3477815</a>] [<a href="https://doi.org/10.1073/pnas.84.19.6919" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3477815">Innerarity et al. (1987)</a>, <a href="#112" class="mim-tip-reference" title="Soria, L. F., Ludwig, E. H., Clarke, H. R. G., Vega, G. L., Grundy, S. M., McCarthy, B. J. <strong>Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100.</strong> Proc. Nat. Acad. Sci. 86: 587-591, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2563166/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2563166</a>] [<a href="https://doi.org/10.1073/pnas.86.2.587" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2563166">Soria et al. (1989)</a> demonstrated a mutation in the codon for amino acid 3500 that results in the substitution of glutamine for arginine. This same mutant allele was found in 6 other, unrelated subjects and in 8 affected relatives in 2 of these families. A partial haplotype of this mutant apoB100 allele was constructed by sequence analysis and restriction enzyme digestion at positions where variations in the apoB100 are known to occur. This haplotype was found to be the same in 3 probands and 4 affected members of 1 family and lacks a polymorphic XbaI site whose presence has been correlated with high cholesterol levels. Thus, it appears that the mutation in the codon for amino acid 3500 (CGG-to-CAG), a CG mutation hotspot, defines a minor apoB100 allele associated with defective low density lipoproteins and hypercholesterolemia. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2563166+3477815+3771801" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#84" class="mim-tip-reference" title="Ludwig, E. H., McCarthy, B. J. <strong>Haplotype analysis of the human apolipoprotein B mutation associated with familial defective apolipoprotein B100.</strong> Am. J. Hum. Genet. 47: 712-720, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1977310/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1977310</a>]" pmid="1977310">Ludwig and McCarthy (1990)</a> used 10 markers for haplotyping at the APOB locus in cases of familial defective apolipoprotein B100: 8 diallelic markers within the structural gene and 2 hypervariable markers flanking the gene. In 14 unrelated subjects heterozygous for the mutation, 7 of 8 unequivocally deduced haplotypes were identical, and 1 revealed only a minor difference at one of the hypervariable loci. The genotypes of the other 6 affected subjects was consistent with the same haplotype. Familial defective apolipoprotein B100 (FDB) results from a G-to-A transition at nucleotide 10708 in exon 26 of the APOB gene. <a href="#84" class="mim-tip-reference" title="Ludwig, E. H., McCarthy, B. J. <strong>Haplotype analysis of the human apolipoprotein B mutation associated with familial defective apolipoprotein B100.</strong> Am. J. Hum. Genet. 47: 712-720, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1977310/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1977310</a>]" pmid="1977310">Ludwig and McCarthy (1990)</a> interpreted the data as consistent with the existence of a common ancestral chromosome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1977310" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a screening for the APOB3500 mutation by PCR amplification and hybridization with an allele-specific oligonucleotide, <a href="#82" class="mim-tip-reference" title="Loux, N., Saint-Jore, B., Collod, G., Benlian, P., Cambou, J. P., Denat, M., Junien, C., Boileau, C. <strong>Identification of the haplotype associated with the APOB-3500 mutation in a French hypercholesterolemic subject: further support for a unique European ancestral mutation.</strong> Hum. Mutat. 2: 145-147, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8318993/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8318993</a>] [<a href="https://doi.org/10.1002/humu.1380020216" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8318993">Loux et al. (1993)</a> found only 1 case among 101 French subjects with familial hypercholesterolemia. The son of this individual, a 45-year-old man, was found also to have the mutation. Haplotype analysis revealed strict identity to that previously reported by <a href="#84" class="mim-tip-reference" title="Ludwig, E. H., McCarthy, B. J. <strong>Haplotype analysis of the human apolipoprotein B mutation associated with familial defective apolipoprotein B100.</strong> Am. J. Hum. Genet. 47: 712-720, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1977310/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1977310</a>]" pmid="1977310">Ludwig and McCarthy (1990)</a>, thus supporting a unique European ancestry. The family lived in the southwest of France and had no knowledge of Germanic origin. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8318993+1977310" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#102" class="mim-tip-reference" title="Rauh, G., Keller, C., Schuster, H., Wolfram, G., Zollner, N. <strong>Familial defective apolipoprotein B-100: a common cause of primary hypercholesterolemia.</strong> Clin. Invest. 70: 77-84, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1600334/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1600334</a>] [<a href="https://doi.org/10.1007/BF00422946" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1600334">Rauh et al. (1992)</a> stated that the frequency of the arg3500-to-gln mutation has been found to be approximately 1/500 to 1/700 in several Caucasian populations in North America and Europe. On the other hand, <a href="#41" class="mim-tip-reference" title="Friedlander, Y., Dann, E. J., Leitersdorf, E. <strong>Absence of familial defective apolipoprotein B-100 in Israeli patients with dominantly inherited hypercholesterolemia and in offspring with parental history of myocardial infarction.(Letter)</strong> Hum. Genet. 91: 299-300, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8478017/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8478017</a>] [<a href="https://doi.org/10.1007/BF00218280" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8478017">Friedlander et al. (1993)</a> found no instance of this mutation in a large screening program in Israel. They pointed out that the mutation has also not been found in Finland (<a href="#48" class="mim-tip-reference" title="Hamalainen, T., Palotie, A., Aalto-Setala, K., Kontula, K., Tikkanen, M. J. <strong>Absence of familial defective apolipoprotein B-100 in Finnish patients with elevated serum cholesterol.</strong> Atherosclerosis 82: 177-183, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2375782/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2375782</a>] [<a href="https://doi.org/10.1016/0021-9150(90)90038-k" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2375782">Hamalainen et al., 1990</a>) and is said to be absent in Japan. <a href="#121" class="mim-tip-reference" title="Tybjaerg-Hansen, A., Humphries, S. E. <strong>Familial defective apolipoprotein B-100: a single mutation that causes hypercholesterolemia and premature coronary artery disease.</strong> Atherosclerosis 96: 91-107, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1466657/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1466657</a>] [<a href="https://doi.org/10.1016/0021-9150(92)90056-m" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1466657">Tybjaerg-Hansen and Humphries (1992)</a> gave a review suggesting that the risk of premature coronary artery disease in the carriers of the mutation is increased to levels as high as those seen in patients with familial hypercholesterolemia; at age 50, about 40% of males and 20% of females heterozygous for the mutation have developed coronary artery disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2375782+8478017+1600334+1466657" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#88" class="mim-tip-reference" title="Marz, W., Ruzicka, C., Pohl, T., Usadel, K. H., Gross, W. <strong>Familial defective apolipoprotein B-100: mild hypercholesterolaemia without atherosclerosis in a homozygous patient.(Letter)</strong> Lancet 340: 1362, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1360085/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1360085</a>] [<a href="https://doi.org/10.1016/0140-6736(92)92554-s" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1360085">Marz et al. (1992)</a> found only moderate hypercholesterolemia in a 54-year-old man who was homozygous for the arg3500-to-gln mutation and on a normal diet without lipid-lowering medication. There was no evidence of atherosclerosis and no history of cardiovascular complaints. The levels of apoE-containing lipoproteins were normal. <a href="#88" class="mim-tip-reference" title="Marz, W., Ruzicka, C., Pohl, T., Usadel, K. H., Gross, W. <strong>Familial defective apolipoprotein B-100: mild hypercholesterolaemia without atherosclerosis in a homozygous patient.(Letter)</strong> Lancet 340: 1362, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1360085/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1360085</a>] [<a href="https://doi.org/10.1016/0140-6736(92)92554-s" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1360085">Marz et al. (1992)</a> suggested that the intact metabolism of apoE-containing particles decreases LDL production in this disorder, explaining the difference from familial hypercholesterolemia due to a receptor defect in which apoE levels are raised. <a href="#87" class="mim-tip-reference" title="Marz, W., Baumstark, M. W., Scharnagl, H., Ruzicka, V., Buxbaum, S., Herwig, J., Pohl, T., Russ, A., Schaaf, L., Berg, A., Bohles, H.-J., Usadel, K. H., Gro, W. <strong>Accumulation of 'small dense' low density lipoproteins (LDL) in a homozygous patient with familial defective apolipoprotein B-100 results from heterogenous interaction of LDL subfractions with the LDL receptor.</strong> J. Clin. Invest. 92: 2922-2933, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8254047/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8254047</a>] [<a href="https://doi.org/10.1172/JCI116915" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8254047">Marz et al. (1993)</a> investigated possible compensatory mechanisms that may have alleviated the consequences of the familial defective apoB100 (FDB). They showed that the receptor interaction of buoyant LDL is normal due to the presence of apoE in these particles. In addition, they provided evidence that the arg3500-to-gln substitution profoundly alters the conformation of the apoB receptor binding domain when apolipoprotein B resides on particles at the lower and upper limits of the LDL density range. They concluded that these mechanisms distinguish FDB from FH and account for the mild hypercholesterolemia in homozygous FDB. Among 43 patients with clinically and biochemically defined type III hyperlipoproteinemia (<a href="/entry/107741">107741</a>), <a href="#40" class="mim-tip-reference" title="Feussner, G., Schuster, H. <strong>Screening for the apolipoprotein B-100 arginine3500-to-glutamine mutation in patients with type III hyperlipoproteinemia.</strong> Clin. Genet. 42: 302-305, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1493642/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1493642</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1992.tb03260.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1493642">Feussner and Schuster (1992)</a> found no instance of the arg3500-to-gln mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8254047+1360085+1493642" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In the course of investigating 2 unrelated French patients heterozygous for mutations in the LDLR gene (<a href="/entry/606945">606945</a>) who had aggravated hypercholesterolemia, <a href="#7" class="mim-tip-reference" title="Benlian, P., de Gennes, J. L., Dairou, F., Hermelin, B., Ginon, I., Villain, E., Lagarde, J. P., Federspiel, M. C., Bertrand, V., Bernard, C., Bereziat, G. <strong>Phenotypic expression in double heterozygotes for familial hypercholesterolemia and familial defective apolipoprotein B-100.</strong> Hum. Mutat. 7: 340-345, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8723684/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8723684</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1996)7:4<340::AID-HUMU8>3.0.CO;2-C" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8723684">Benlian et al. (1996)</a> found that each carried the identical arg3500-to-gln mutation in the APOB gene, i.e., were double heterozygotes. One of the patients was a 10-year-old boy when he was referred for hypercholesterolemia discovered at the time of a cardiac arrest. He had no planar xanthomata, although he exhibited bilateral xanthomas of the Achilles and metacarpal phalangeal tendons. Peripheral arterial disease was demonstrated by the presence of arterial murmurs and by arterial wall irregularity on ultrasound analysis. Stenoses of coronary arteries necessitated surgical angioplasty. The second patient was a 39-year-old man with myocardial infarction and acute ischemia of the legs. Both families came from the Perche region from which many French Canadians originated. The LDLR mutations trp66-to-gly (<a href="/entry/606945#0003">606945.0003</a>) and glu207-to-lys (<a href="/entry/606945#0007">606945.0007</a>) had previously been described in French Canadians. <a href="#104" class="mim-tip-reference" title="Rubinsztein, D. C., Raal, F. J., Seftel, H. C., Pilcher, G., Coetzee, G. A., van der Westhuyzen, D. R. <strong>Characterization of six patients who are double heterozygotes for familial hypercholesterolemia and familial defective apo B-100.</strong> Arterioscler. Thromb. 13: 1076-1081, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8318509/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8318509</a>] [<a href="https://doi.org/10.1161/01.atv.13.7.1076" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8318509">Rubinsztein et al. (1993)</a> described an Afrikaner family with 6 FH/FDB double heterozygotes carrying another LDLR mutation, asp206-to-glu (<a href="/entry/606945#0006">606945.0006</a>). (<a href="#7" class="mim-tip-reference" title="Benlian, P., de Gennes, J. L., Dairou, F., Hermelin, B., Ginon, I., Villain, E., Lagarde, J. P., Federspiel, M. C., Bertrand, V., Bernard, C., Bereziat, G. <strong>Phenotypic expression in double heterozygotes for familial hypercholesterolemia and familial defective apolipoprotein B-100.</strong> Hum. Mutat. 7: 340-345, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8723684/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8723684</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1996)7:4<340::AID-HUMU8>3.0.CO;2-C" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8723684">Benlian et al. (1996)</a>, in the title of their article, correctly referred to these patients as double heterozygotes; in the paper itself they incorrectly referred to them as FH/FDB compound heterozygotes. The latter term is used for heterozygosity for alleles at the same locus.) <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8318509+8723684" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a patient homozygous for the R3500Q mutation, <a href="#106" class="mim-tip-reference" title="Schaefer, J. R., Scharnagl, H., Baumstark, M. W., Schweer, H., Zech, L. A., Seyberth, H., Winkler, K., Steinmetz, A., Marz, W. <strong>Homozygous familial defective apolipoprotein B-100: enhanced removal of apolipoprotein E-containing VLDLs and decreased production of LDLs.</strong> Arterioscler. Thromb. Vasc. Biol. 17: 348-353, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9081691/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9081691</a>] [<a href="https://doi.org/10.1161/01.atv.17.2.348" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9081691">Schaefer et al. (1997)</a> found LDL cholesterol and apoB concentrations approximately twice normal, whereas apoE plasma level was low. Using a stable-isotope labeling technique, they obtained data showing that the in vivo metabolism of apoB100-containing lipoproteins in FDB is different from that in familial hypercholesterolemia, in which LDL receptors are defective. Although the residence times of LDL apoB100 appeared to be increased to approximately the same degree, LDL apoB100 synthetic rate was increased in FH and decreased in FDB. The decreased production of LDL apoB100 in FDB may originate from enhanced removal of apoE-containing LDL precursors by LDL receptors, which may be upregulated in response to the decreased flux of LDL-derived cholesterol into hepatocytes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9081691" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Almost all individuals with familial defective apoB100 are of European descent, and in almost all cases the mutation is on a chromosome with a rare haplotype at the apoB locus, suggesting that all probands are descended from a common ancestor in whom the original mutation occurred. Distribution of the mutation is consistent with an origin in Europe 6,000 to 7,000 years ago. <a href="#93" class="mim-tip-reference" title="Myant, N. B., Forbes, S. A., Day, I. N. M., Gallaghers, J. <strong>Estimation of the age of the ancestral arginine3500-to-glutamine mutation in human apoB-100.</strong> Genomics 45: 78-87, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9339363/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9339363</a>] [<a href="https://doi.org/10.1006/geno.1997.4898" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9339363">Myant et al. (1997)</a> estimated the amount of recombination between the APOB gene and markers on chromosome 2 in 34 FDB (R3500Q) probands in whom the mutation is on the usual 194 haplotype. Significant linkage disequilibrium was found between the APOB gene and marker D2S220. They identified 3 YACs that contained the APOB gene and D2S220. The shortest restriction fragment common to the 3 YACs that contain both loci was 240 kb long. No shorter fragments with both loci were identified. On the assumption that 1000 kb corresponds to 1 cM, <a href="#93" class="mim-tip-reference" title="Myant, N. B., Forbes, S. A., Day, I. N. M., Gallaghers, J. <strong>Estimation of the age of the ancestral arginine3500-to-glutamine mutation in human apoB-100.</strong> Genomics 45: 78-87, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9339363/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9339363</a>] [<a href="https://doi.org/10.1006/geno.1997.4898" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9339363">Myant et al. (1997)</a> deduced that the recombination distance between D2S220 and the APOB gene is about 0.24 cM. Combining this value with the linkage disequilibrium observed between the 2 loci in the probands, they estimated that the ancestral mutation occurred about 270 generations ago. They postulated that the original mutation occurred in the common ancestor of living FDB (R3500Q) probands, who lived in Europe about 6,750 years ago. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9339363" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#122" class="mim-tip-reference" title="Tybjaerg-Hansen, A., Steffensen, R., Meinertz, H., Schnohr, P., Nordestgaard, B. G. <strong>Association of mutations in the apolipoprotein B gene with hypercholesterolemia and the risk of ischemic heart disease.</strong> New Eng. J. Med. 338: 1577-1584, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9603795/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9603795</a>] [<a href="https://doi.org/10.1056/NEJM199805283382203" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9603795">Tybjaerg-Hansen et al. (1998)</a> found that the R3500Q mutation in the APOB gene is present in approximately 1 in 1,000 persons in Denmark and causes severe hypercholesterolemia and increases the risk of ischemic heart disease. Heterozygous carriers of the arg3531-to-cys (<a href="#0017">107730.0017</a>) mutation, which is present in the population in approximately the same frequency and also is associated with familial defective apolipoprotein B100, was not associated with higher-than-normal plasma cholesterol levels or an increased risk of ischemic heart disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9603795" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#105" class="mim-tip-reference" title="Saint-Jore, B., Varret, M., Dachet, C., Rabes, J.-P., Devillers, M., Erlich, D., Blanchard, P., Krempf, M., Mathe, D., Chanu, B., Jacotot, B., Farnier, M., Bonaiti-Pellie, C., Junien, C., Boileau, C. <strong>Autosomal dominant type IIa hypercholesterolemia: evaluation of the respective contributions of LDLR and APOB gene defects as well as a third major group of defects.</strong> Europ. J. Hum. Genet. 8: 621-630, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10952765/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10952765</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200516" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10952765">Saint-Jore et al. (2000)</a> estimated the respective contributions of the LDLR gene defect, APOB gene defect, and other gene defects in autosomal dominant type IIa hypercholesterolemia by studying 33 well-characterized French families in which this disorder had been diagnosed over at least 3 generations. Using the candidate gene approach, they found that defects in the LDLR gene accounted for the disorder in about 50% of the families. The estimated contribution of an APOB gene defect was only 15%. This low estimation of involvement of the APOB gene defect was strengthened by the existence of only 2 probands carrying the R3500Q mutation. Surprisingly, 35% of the families were estimated to be linked to neither LDLR nor APOB. The results suggested that genetic heterogeneity in type IIa hypercholesterolemia had been underestimated and that at least 3 major groups of defects were involved. The authors were unable to estimate the contribution of the FH3 gene (<a href="/entry/603776">603776</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10952765" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#19" class="mim-tip-reference" title="Boren, J., Ekstrom, U., Agren, B., Nilsson-Ehle, P., Innerarity, T. L. <strong>The molecular mechanism for the genetic disorder familial defective apolipoprotein B100.</strong> J. Biol. Chem. 276: 9214-9218, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11115503/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11115503</a>] [<a href="https://doi.org/10.1074/jbc.M008890200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11115503">Boren et al. (2001)</a> concluded that normal receptor binding of LDL involves an interaction between arginine-3500 and tryptophan-4369 in the carboxyl tail of apoB100. Trp4369 to tyr (W4369Y) LDL and arg3500 to gln (R3500Q) LDL isolated from transgenic mice had identically defective LDL binding and a higher affinity for a monoclonal antibody that has an epitope flanking residue 3500. <a href="#19" class="mim-tip-reference" title="Boren, J., Ekstrom, U., Agren, B., Nilsson-Ehle, P., Innerarity, T. L. <strong>The molecular mechanism for the genetic disorder familial defective apolipoprotein B100.</strong> J. Biol. Chem. 276: 9214-9218, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11115503/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11115503</a>] [<a href="https://doi.org/10.1074/jbc.M008890200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11115503">Boren et al. (2001)</a> concluded that arginine-3500 interacts with tryptophan-4369 and facilitates the conformation of apoB100 required for normal receptor binding of LDL. They developed a model that explained how the carboxyl terminus of apoB100 interacts with the backbone of apoB100 that enwraps the LDL particle. The model explained how all known ligand-defective mutations in apoB100, including a newly discovered R3480W mutation, cause defective receptor binding. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11115503" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#58" class="mim-tip-reference" title="Horvath, A., Savov, A., Kirov, S., Karshelova, E., Paskaleva, I., Goudev, A., Ganev, V. <strong>High frequency of the ApoB-100 R3500Q mutation in Bulgarian hypercholesterolaemic subjects.</strong> J. Med. Genet. 38: 536-540, 2001. Note: Erratum: J. Med. Genet. 39: 303 only, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11494965/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11494965</a>] [<a href="https://doi.org/10.1136/jmg.38.8.536" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11494965">Horvath et al. (2001)</a> studied 130 unrelated individuals with hypercholesterolemia in Bulgaria. Four of these individuals were found to be carriers of this mutation. <a href="#58" class="mim-tip-reference" title="Horvath, A., Savov, A., Kirov, S., Karshelova, E., Paskaleva, I., Goudev, A., Ganev, V. <strong>High frequency of the ApoB-100 R3500Q mutation in Bulgarian hypercholesterolaemic subjects.</strong> J. Med. Genet. 38: 536-540, 2001. Note: Erratum: J. Med. Genet. 39: 303 only, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11494965/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11494965</a>] [<a href="https://doi.org/10.1136/jmg.38.8.536" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11494965">Horvath et al. (2001)</a> concluded that this mutation accounts for 0.99 to 8.17% (95% CI) of cases of hypercholesterolemia in Bulgaria and therefore represents the most common single mutation associated with this condition in Bulgaria. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11494965" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Bednarska-Makaruk, M., Bisko, M., Pulawska, M. F., Hoffman-Zacharska, D., Rodo, M., Roszczynko, M., Solik-Tomassi, A., Broda, G., Polakowska, M., Pytlak, A., Wehr, H. <strong>Familial defective apolipoprotein B-100 in a group of hypercholesterolaemic patients in Poland: identification of a new mutation Thr3492Ile in the apolipoprotein B gene.</strong> Europ. J. Hum. Genet. 9: 836-842, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11781700/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11781700</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200720" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11781700">Bednarska-Makaruk et al. (2001)</a> found the arg3500-to-gln mutation in 2.5% (13/525) of unrelated patients with hypercholesterolemia in Poland. All the patients belonged to the type IIA hyperlipoproteinemia group. In 65 patients with the clinical characteristics of familial hypercholesterolemia, the frequency of the arg3500-to-gln mutation was 10.8% (7/65). The same haplotype at the APOB locus in the carriers of this mutation in Poland as in other populations from western Europe suggested its common origin. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11781700" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000019475" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019475" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019475</a>
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<p>In an Arab patient with hypobetalipoproteinemia and absent plasma apolipoprotein B (<a href="/entry/615558">615558</a>), <a href="#61" class="mim-tip-reference" title="Huang, L.-S., Ripps, M. E., Korman, S. H., Deckelbaum, R. J., Breslow, J. L. <strong>Hypobetalipoproteinemia due to an apolipoprotein B gene exon 21 deletion derived by Alu-Alu recombination.</strong> J. Biol. Chem. 264: 11394-11400, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2567736/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2567736</a>]" pmid="2567736">Huang et al. (1989)</a> demonstrated deletion of the entire exon 21 (211 basepairs coding for amino acids 1014 to 1084). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2567736" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000251913 OR RCV000256231 OR RCV000845489 OR RCV001837802 OR RCV002287892 OR RCV002450767 OR RCV003389246" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000251913, RCV000256231, RCV000845489, RCV001837802, RCV002287892, RCV002450767, RCV003389246" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000251913...</a>
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<p><a href="#124" class="mim-tip-reference" title="Visvikis, S., Chan, L., Siest, G., Drouin, P., Boerwinkle, E. <strong>An insertion deletion polymorphism in the signal peptide of the human apolipoprotein B gene.</strong> Hum. Genet. 84: 373-375, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2307462/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2307462</a>] [<a href="https://doi.org/10.1007/BF00196239" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2307462">Visvikis et al. (1990)</a> described an insertion/deletion polymorphism in the signal peptide. One allele, coding a peptide 27 amino acids long, had a frequency of 0.655; the second allele, coding a peptide 24 amino acids long, had a frequency of 0.345. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2307462" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121918387 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918387;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121918387" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121918387" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000019481 OR RCV002496419 OR RCV005003395" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019481, RCV002496419, RCV005003395" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019481...</a>
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<p>In a man and 6 of his children with hypobetalipoproteinemia (<a href="/entry/615558">615558</a>), <a href="#126" class="mim-tip-reference" title="Welty, F. K., Hubl, S. T., Pierotti, V. R., Young, S. G. <strong>A truncated species of apolipoprotein B (B67) in a kindred with familial hypobetalipoproteinemia.</strong> J. Clin. Invest. 87: 1748-1754, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2022744/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2022744</a>] [<a href="https://doi.org/10.1172/JCI115193" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2022744">Welty et al. (1991)</a> found that the plasma lipoproteins contained a unique species of apolipoprotein B, apoB67, in addition to the normal species, apoB100 and apoB48. Further study indicated that the apoB67 was a truncated species that contained approximately the amino-terminal 3,000 to 3,100 amino acids of apoB100. Heterozygosity was identified for a mutant APOB allele containing a single nucleotide deletion in exon 26 (cDNA nucleotide 9327). The change in codon 3041 from ATA (leu) to TAG (stop) led to truncation after amino acid 3040. Mean total and LDL cholesterol levels were 120 and 42 mg/dl, respectively. All affected members of the kindred had high HDL cholesterol levels. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2022744" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0013 HYPOBETALIPOPROTEINEMIA, NORMOTRIGLYCERIDEMIC</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121918388 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918388;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121918388?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121918388" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121918388" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV001837438" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001837438" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001837438</a>
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<p><a href="#86" class="mim-tip-reference" title="Malloy, M. J., Kane, J. P., Hardman, D. A., Hamilton, R. L., Dalal, K. B. <strong>Normotriglyceridemic abetalipoproteinemia: absence of the B-100 apolipoprotein.</strong> J. Clin. Invest. 67: 1441-1450, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7229035/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7229035</a>] [<a href="https://doi.org/10.1172/jci110173" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7229035">Malloy et al. (1981)</a> described a patient (A.F.) with a metabolic disorder that they termed normotriglyceridemic abetalipoproteinemia (<a href="/entry/615558">615558</a>). Similar cases were reported by <a href="#115" class="mim-tip-reference" title="Takashima, Y., Kodama, T., Iida, H., Kawamura, M., Aburatani, H., Itakura, H., Akanuma, Y., Takaku, F., Kawade, M. <strong>Normotriglyceridemic abetalipoproteinemia in infancy: an isolated apolipoprotein B-100 deficiency.</strong> Pediatrics 75: 541-546, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3975124/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3975124</a>]" pmid="3975124">Takashima et al. (1985)</a>, <a href="#54" class="mim-tip-reference" title="Herbert, P. N., Hyams, J. S., Bernier, D. N., Berman, M. M., Saritelli, A. L., Lynch, K. M., Nichols, A. V., Forte, T. M. <strong>Apolipoprotein B-100 deficiency: intestinal steatosis despite apolipoprotein B-48 synthesis.</strong> J. Clin. Invest. 76: 403-412, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4031057/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4031057</a>] [<a href="https://doi.org/10.1172/JCI111986" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4031057">Herbert et al. (1985)</a>, and <a href="#49" class="mim-tip-reference" title="Harano, Y., Kojima, H., Nakano, T., Harada, M., Kashiwagi, A., Nakajima, Y., Hidaka, T. H., Ohtsuki, T., Suzuki, T., Tamura, A., Fujii, T., Nishimura, T., Ohtaka, T., Shigeta, Y. <strong>Homozygous hypobetalipoproteinemia with spared chylomicron formation.</strong> Metabolism 38: 1-7, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2909827/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2909827</a>] [<a href="https://doi.org/10.1016/0026-0495(89)90172-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2909827">Harano et al. (1989)</a>. The disorder was characterized by the absence of LDLs and apoB100 in plasma with apparently normal secretion of triglyceride-rich lipoproteins containing apoB48. Subsequent studies in A.F. suggested that the patient's plasma might be a truncated form of apoB100, slightly longer than the normal apoB48 chain. <a href="#51" class="mim-tip-reference" title="Hardman, D. A., Pullinger, C. R., Hamilton, R. L., Kane, J. P., Malloy, M. J. <strong>Molecular and metabolic basis for the metabolic disorder normotriglyceridemic abetalipoproteinemia.</strong> J. Clin. Invest. 88: 1722-1729, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1939657/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1939657</a>] [<a href="https://doi.org/10.1172/JCI115490" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1939657">Hardman et al. (1991)</a> demonstrated that the patient was homozygous for a single C-to-T substitution at nucleotide 6963 of apoB cDNA. This substitution resulted in a change from CAG (glutamine) to TAG (stop) at position 2252. Thus, this was a rare example of homozygous hypobetalipoproteinemia. Because LDL particles that contained apoB50 lacked the putative ligand domain of the LDL receptor, the very low level of LDL was presumably due to the rapid removal of the abnormal VLDL particles before their conversion to LDL could take place. As reviewed by <a href="#51" class="mim-tip-reference" title="Hardman, D. A., Pullinger, C. R., Hamilton, R. L., Kane, J. P., Malloy, M. J. <strong>Molecular and metabolic basis for the metabolic disorder normotriglyceridemic abetalipoproteinemia.</strong> J. Clin. Invest. 88: 1722-1729, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1939657/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1939657</a>] [<a href="https://doi.org/10.1172/JCI115490" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1939657">Hardman et al. (1991)</a>, a considerable number of mutations resulting in truncated versions of apoB have been described, the smallest variant being apoB31, and the longest, apoB90. Using 3 genetic markers of the APOB gene in a study of the family reported by <a href="#115" class="mim-tip-reference" title="Takashima, Y., Kodama, T., Iida, H., Kawamura, M., Aburatani, H., Itakura, H., Akanuma, Y., Takaku, F., Kawade, M. <strong>Normotriglyceridemic abetalipoproteinemia in infancy: an isolated apolipoprotein B-100 deficiency.</strong> Pediatrics 75: 541-546, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3975124/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3975124</a>]" pmid="3975124">Takashima et al. (1985)</a>, <a href="#94" class="mim-tip-reference" title="Naganawa, S., Kodama, T., Aburatani, H., Matsumoto, A., Itakura, H., Takashima, Y., Kawamura, M., Muto, Y. <strong>Genetic analysis of a Japanese family with normotriglyceridemic abetalipoproteinemia indicates a lack of linkage to the apolipoprotein B gene.</strong> Biochem. Biophys. Res. Commun. 182: 99-104, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1731805/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1731805</a>] [<a href="https://doi.org/10.1016/s0006-291x(05)80117-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1731805">Naganawa et al. (1992)</a> found that the proband and her affected brother showed completely different APOB alleles, indicating that in this family the defect was not in the APOB gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4031057+2909827+1731805+1939657+7229035+3975124" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#57" class="mim-tip-reference" title="Homer, V. M., George, P. M., du Toit, S., Davidson, J. S., Wilson, C. J. <strong>Mental retardation and ataxia due to normotriglyceridemic hypobetalipoproteinemia.</strong> Ann. Neurol. 58: 160-163, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15984016/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15984016</a>] [<a href="https://doi.org/10.1002/ana.20531" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15984016">Homer et al. (2005)</a> suggested that the term 'normotriglyceridemic hypobetalipoproteinemia' is preferred to 'normotriglyceridemic abetalipoproteinemia' because abetalipoproteinemia (ABL; <a href="/entry/200100">200100</a>) refers to the disorder caused by mutation in the MTP gene (<a href="/entry/157147">157147</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15984016" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0014 HYPOBETALIPOPROTEINEMIA, FAMILIAL, ASSOCIATED WITH APOB32</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121918389 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918389;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121918389?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121918389" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121918389" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000019483" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019483" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019483</a>
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<p>In a person with heterozygous hypobetalipoproteinemia (<a href="/entry/615558">615558</a>), <a href="#89" class="mim-tip-reference" title="McCormick, S. P. A., Fellowes, A. P., Walmsley, T. A., George, P. M. <strong>Apolipoprotein B-32: a new truncated mutant of human apolipoprotein B capable of forming particles in the low density lipoprotein range.</strong> Biochim. Biophys. Acta 1138: 290-296, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1562615/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1562615</a>] [<a href="https://doi.org/10.1016/0925-4439(92)90006-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1562615">McCormick et al. (1992)</a> identified a nonsense mutation, gln1450-to-ter (Q1450X), that prevented full-length translation. The new apolipoprotein B, apoB32, is predicted to contain the 1,449 N-terminal amino acids of apoB100. It was associated with a markedly decreased level of low density lipoprotein (LDL cholesterol). Unique among the truncated apoB species, apoB32 was found in the high density lipoprotein and lipoprotein-depleted fractions, suggesting that it was mainly assembled into abnormally dense lipoprotein particles. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1562615" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0015 HYPOBETALIPOPROTEINEMIA, FAMILIAL</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121918390 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918390;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121918390?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121918390" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121918390" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000019484 OR RCV001027451 OR RCV001837439" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019484, RCV001027451, RCV001837439" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019484...</a>
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<p>In a patient with familial hypobetalipoproteinemia (<a href="/entry/615558">615558</a>), <a href="#116" class="mim-tip-reference" title="Talmud, P. J., Converse, C., Krul, E., Huq, L., McIlwaine, G. G., Series, J. J., Boyd, P., Schonfeld, G., Dunning, A., Humphries, S. <strong>A novel truncated apolipoprotein B (apo B55) in a patient with familial hypobetalipoproteinemia and atypical retinitis pigmentosa.</strong> Clin. Genet. 42: 62-70, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1424233/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1424233</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1992.tb03141.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1424233">Talmud et al. (1992)</a> identified a C-to-T transition at nucleotide 7692 of the APOB gene which changed the CGA arginine codon to a stop codon resulting in a premature termination of apoB100. The truncated protein was predicted to be 2,494 amino acids long with the predicted size of apoB55. The patient had low total cholesterol and LDL-cholesterol as did also other relatives in an autosomal dominant pattern. In addition, the propositus, his mother, and both of his sibs had atypical retinitis pigmentosa. Since the RP-affected brother did not have the APOB mutation, <a href="#116" class="mim-tip-reference" title="Talmud, P. J., Converse, C., Krul, E., Huq, L., McIlwaine, G. G., Series, J. J., Boyd, P., Schonfeld, G., Dunning, A., Humphries, S. <strong>A novel truncated apolipoprotein B (apo B55) in a patient with familial hypobetalipoproteinemia and atypical retinitis pigmentosa.</strong> Clin. Genet. 42: 62-70, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1424233/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1424233</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1992.tb03141.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1424233">Talmud et al. (1992)</a> concluded that the eye disease was independent of the hypobetalipoproteinemia. They speculated, however, that a reduction in apoB-containing lipoproteins might alter the balance of the fatty acid supply to the retina and thus affect the evolution of retinitis pigmentosa in this family. The retinitis pigmentosa was late in onset. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1424233" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0016 HYPOBETALIPOPROTEINEMIA, FAMILIAL</strong>
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APOB, 1-BP DEL, NT11840
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs587776852 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587776852;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs587776852?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs587776852" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs587776852" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000019485 OR RCV001851948" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019485, RCV001851948" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019485...</a>
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<p>In H.J.B. and 2 sibs with asymptomatic familial hypobetalipoproteinemia (<a href="/entry/615558">615558</a>) reported by <a href="#114" class="mim-tip-reference" title="Steinberg, D., Grundy, S. M., Mok, H. Y. I., Turner, J. D., Weinstein, D. B., Brown, W. V., Albers, J. J. <strong>Metabolic studies in an unusual case of asymptomatic familial hypobetalipoproteinemia with hypoalphalipoproteinemia and fasting chylomicronemia.</strong> J. Clin. Invest. 64: 292-301, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/221546/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">221546</a>] [<a href="https://doi.org/10.1172/JCI109451" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="221546">Steinberg et al. (1979)</a>, <a href="#81" class="mim-tip-reference" title="Linton, M. F., Pierotti, V., Young, S. G. <strong>Reading-frame restoration with an apolipoprotein B gene frameshift mutation.</strong> Proc. Nat. Acad. Sci. 89: 11431-11435, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1454832/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1454832</a>] [<a href="https://doi.org/10.1073/pnas.89.23.11431" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1454832">Linton et al. (1992)</a> demonstrated that one of the alleles, which yielded very low levels of apoB100, had a deletion of a single cytosine in exon 26 (nucleotide 11840 of the apoB cDNA). This frameshift mutation was predicted to yield a 20-amino acid sequence (KKQIMLKQSWIPHAAQPYSS) not found in the wildtype, followed by a premature stop codon. Indeed, they found an antiserum to a synthetic peptide containing this 20-amino acid sequence (frameshift peptide 3877-3896) bound specifically to apoB86 but not to apoB100. Thus the compound heterozygotes had 2 mutant apoB alleles, one primarily responsible for apoB37 (<a href="#0001">107730.0001</a>) and the other responsible for apoB86, both of which contained frameshift mutations in exon 26. <a href="#81" class="mim-tip-reference" title="Linton, M. F., Pierotti, V., Young, S. G. <strong>Reading-frame restoration with an apolipoprotein B gene frameshift mutation.</strong> Proc. Nat. Acad. Sci. 89: 11431-11435, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1454832/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1454832</a>] [<a href="https://doi.org/10.1073/pnas.89.23.11431" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1454832">Linton et al. (1992)</a> further demonstrated that the 1-bp deletion in the apoB86 allele created a stretch of 8 consecutive adenines. Addition of a single adenine within the 8 consecutive adenines would be predicted to correct the altered reading frame, thereby resulting in the production of a full-length protein. They presented evidence that a significant percentage (about 11%) of the apoB cDNA clones from rat hepatoma cells transformed with an apoB construct containing the 1-bp deletion indeed had 9 consecutive adenines. It appeared that the addition of an extra adenine during transcription restored the correct reading frame and accounted for the formation of some apoB100 from the apoB86 allele. Other experiments were thought to exclude an alternative explanation, the activation of a cryptic splice site within exon 26 upstream from the deletion. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=221546+1454832" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0017 HYPERCHOLESTEROLEMIA, FAMILIAL, 2</strong>
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APOB, ARG3531CYS
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs12713559 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs12713559;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs12713559?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs12713559" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs12713559" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>Suspecting that mutations in the APOB gene other than the arg3500-to-gln mutation (<a href="#0009">107730.0009</a>) may cause familial hypercholesterolemia (FHCL2; <a href="/entry/144010">144010</a>), <a href="#99" class="mim-tip-reference" title="Pullinger, C. R., Hennessy, L. K., Chatterton, J. E., Liu, W., Love, J. A., Mendel, C. M., Frost, P. H., Malloy, M. J., Schumaker, V. N., Kane, J. P. <strong>Familial ligand-defective apolipoprotein B: identification of a new mutation that decreases LDL receptor binding affinity.</strong> J. Clin. Invest. 95: 1225-1234, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7883971/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7883971</a>] [<a href="https://doi.org/10.1172/JCI117772" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7883971">Pullinger et al. (1995)</a> used single-strand conformation polymorphism analysis to screen genomic DNA from patients attending a lipid clinic and looked for mutations in the putative LDL receptor-binding domain of apoB100. They found a novel arg3531-to-cys mutation, caused by a C-to-T transition at nucleotide 10800, in a 46-year-old woman of Celtic and Native American ancestry with primary hypercholesterolemia and pronounced peripheral vascular disease. After screening 1,560 individuals, one unrelated 59-year-old man of Italian ancestry was found to have the same mutation. He had coronary heart disease, a triglyceride cholesterol of 310 mg/dl, and an LDL cholesterol of 212 mg/dl. A total of 8 individuals were found with the same defect in the families of these 2 patients. The age- and sex-adjusted TC and LDL-C were 240 and 169, respectively, for the 8 affected individuals, as compared with 185 and 124, respectively, for 8 unaffected family members. In a dual-labeled fibroblast binding assay, LDL from the 8 subjects with the mutation had an affinity for the LDL receptor that was 63% of that of control LDL. LDL from 8 unaffected family members had an affinity of 91%. By way of comparison, LDL from 6 patients heterozygous for the arg3500-to-gln mutation had an affinity of 36%. Deduced haplotypes using 10 APOB gene markers showed the arg3531-to-cys alleles to be different in the 2 kindreds and indicated that the mutations arose independently. This was the second reported cause of familial ligand-defective apoB. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7883971" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1572800245 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1572800245;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1572800245" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs1572800245" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000019487 OR RCV001851949" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019487, RCV001851949" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019487...</a>
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<p><a href="#53" class="mim-tip-reference" title="Hegele, R. A., Miskie, B. A. <strong>Acanthocytosis in a patient with homozygous familial hypobetalipoproteinemia due to a novel APOB splice site mutation.</strong> Clin. Genet. 61: 101-103, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11940084/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11940084</a>] [<a href="https://doi.org/10.1034/j.1399-0004.2002.610204.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11940084">Hegele and Miskie (2002)</a> described acanthocytosis in a 31-year-old woman with homozygous familial hypobetalipoproteinemia (<a href="/entry/615558">615558</a>) due to a splicing mutation in the APOB gene, IVS7-2A-G. Treatment with fat-soluble vitamins was associated with arrest of the usually progressive neurologic complications of this condition. However, acanthocytosis persisted. The diagnosis of hypobetalipoproteinemia was made at the age of 11 years on the basis of acanthocytosis and the absence of apoB-containing lipoproteins. The consanguineous parents were heterozygotes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11940084" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a family segregating familial hypobetalipoproteinemia (<a href="/entry/615558">615558</a>), <a href="#136" class="mim-tip-reference" title="Yue, P., Yuan, B., Gerhard, D. S., Neuman, R. J., Isley, W. L., Harris, W. S., Schonfeld, G. <strong>Novel mutations of APOB cause ApoB truncations undetectable in plasma and familial hypobetalipoproteinemia.</strong> Hum. Mutat. 20: 110-116, 2002. Note: Erratum: Hum. Mutat. 20: 402 only, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12124991/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12124991</a>] [<a href="https://doi.org/10.1002/humu.10101" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12124991">Yue et al. (2002)</a> described a 1-bp deletion, 4432delT, in exon 26 of the APOB gene, producing a frameshift and a premature stop codon and resulting in a truncated apoB-30.9. Although this truncation was only 10 amino acids shorter than the well-documented apoB31 (<a href="#0008">107730.0008</a>), which is readily detectable in plasma, apoB-30.9 was undetectable. Most truncations shorter than apoB-30 are not detectable in plasma. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12124991" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0020 HYPOBETALIPOPROTEINEMIA, NORMOTRIGLYCERIDEMIC</strong>
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<p>In a patient with normotriglyceridemic hypobetalipoproteinemia (<a href="/entry/615558">615558</a>), obesity, and mental retardation, <a href="#57" class="mim-tip-reference" title="Homer, V. M., George, P. M., du Toit, S., Davidson, J. S., Wilson, C. J. <strong>Mental retardation and ataxia due to normotriglyceridemic hypobetalipoproteinemia.</strong> Ann. Neurol. 58: 160-163, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15984016/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15984016</a>] [<a href="https://doi.org/10.1002/ana.20531" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15984016">Homer et al. (2005)</a> identified compound heterozygosity for 2 mutations in the APOB gene. One was a 4-bp deletion beginning at nucleotide 36491 in exon 26, predicted to result in a frameshift and incorporation of 5 new amino acids before encountering a premature termination codon at position 3053. This translated protein would be 66% of full-length apoB, which would allow for expression in the liver and for production of minute amounts of VLDL and LDL. Accordingly, the patient did not have failure to thrive or steatorrhea. The second mutation was a 29142T-A transversion in exon 23, resulting in a tyr1173-to-ter (Y1173X; <a href="#0021">107730.0021</a>) substitution. The translated Y1173X protein is predicted to be 25.8% of apoB100 and is not expressed in apoB-containing lipoproteins. <a href="#57" class="mim-tip-reference" title="Homer, V. M., George, P. M., du Toit, S., Davidson, J. S., Wilson, C. J. <strong>Mental retardation and ataxia due to normotriglyceridemic hypobetalipoproteinemia.</strong> Ann. Neurol. 58: 160-163, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15984016/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15984016</a>] [<a href="https://doi.org/10.1002/ana.20531" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15984016">Homer et al. (2005)</a> suggested that the clinical features of ataxia, visual impairment, and probable neuropathy seen in the patient resulted from the inability to transport the active stereoisomer of vitamin E from the liver. These clinical features were similar to those seen in isolated vitamin E deficiency (VED; <a href="/entry/277460">277460</a>). <a href="#57" class="mim-tip-reference" title="Homer, V. M., George, P. M., du Toit, S., Davidson, J. S., Wilson, C. J. <strong>Mental retardation and ataxia due to normotriglyceridemic hypobetalipoproteinemia.</strong> Ann. Neurol. 58: 160-163, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15984016/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15984016</a>] [<a href="https://doi.org/10.1002/ana.20531" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15984016">Homer et al. (2005)</a> noted that the clinical features of this patient were similar to those of the patient reported by <a href="#86" class="mim-tip-reference" title="Malloy, M. J., Kane, J. P., Hardman, D. A., Hamilton, R. L., Dalal, K. B. <strong>Normotriglyceridemic abetalipoproteinemia: absence of the B-100 apolipoprotein.</strong> J. Clin. Invest. 67: 1441-1450, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7229035/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7229035</a>] [<a href="https://doi.org/10.1172/jci110173" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7229035">Malloy et al. (1981)</a> (see <a href="#0013">107730.0013</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7229035+15984016" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#57" class="mim-tip-reference" title="Homer, V. M., George, P. M., du Toit, S., Davidson, J. S., Wilson, C. J. <strong>Mental retardation and ataxia due to normotriglyceridemic hypobetalipoproteinemia.</strong> Ann. Neurol. 58: 160-163, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15984016/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15984016</a>] [<a href="https://doi.org/10.1002/ana.20531" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15984016">Homer et al. (2005)</a> suggested that the term 'normotriglyceridemic hypobetalipoproteinemia' is preferred to 'normotriglyceridemic abetalipoproteinemia' because abetalipoproteinemia (ABL; <a href="/entry/200100">200100</a>) refers to the disorder caused by mutation in the MTP gene (<a href="/entry/157147">157147</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15984016" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121918391 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918391;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121918391" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121918391" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>For discussion of the tyr1173-to-ter (Y1173X) mutation in the APOB gene that was found in compound heterozygous state in a patient with normotriglyceridemic hypobetalipoproteinemia (<a href="/entry/615558">615558</a>) by <a href="#57" class="mim-tip-reference" title="Homer, V. M., George, P. M., du Toit, S., Davidson, J. S., Wilson, C. J. <strong>Mental retardation and ataxia due to normotriglyceridemic hypobetalipoproteinemia.</strong> Ann. Neurol. 58: 160-163, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15984016/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15984016</a>] [<a href="https://doi.org/10.1002/ana.20531" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15984016">Homer et al. (2005)</a>, see <a href="#0020">107730.0020</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15984016" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0022 HYPOBETALIPOPROTEINEMIA, FAMILIAL</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs606231236 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs606231236;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs606231236" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs606231236" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000032601" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000032601" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000032601</a>
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<p>In a 27-year-old woman from a consanguineous French Canadian family, who was diagnosed with familial hypobetalipoproteinemia (FHBL; <a href="/entry/615558">615558</a>) in the first months of life, <a href="#45" class="mim-tip-reference" title="Gangloff, A., Bergeron, J., Couture, P., Martins, R., Hegele, R. A., Gagne, C. <strong>A novel mutation of apolipoprotein B in a French Canadian family with homozygous hypobetalipoproteinemia.</strong> J. Clin. Lipidol. 5: 414-417, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21981844/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21981844</a>] [<a href="https://doi.org/10.1016/j.jacl.2011.06.014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21981844">Gangloff et al. (2011)</a> identified a 2-bp insertion (825insGG) in exon 9 of the APOB gene, causing a frameshift predicted to result in a truncated protein that is approximately 7% of the normal APOB length. The proband and 2 younger brothers, aged 12 and 4 years, had undetectable apoB levels, extremely low levels of cholesterol in all lipoprotein fractions, low levels of lipophilic vitamins, and acanthocytosis. Vitamin E deficiency was present in all 3. The obligate-heterozygote parents had plasma levels of apoB-containing lipoproteins that were approximately 50% of normal, suggesting a codominant pattern of inheritance. The parents declined genetic testing for themselves and their younger children. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21981844" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Aggerbeck1974" class="mim-tip-reference" title="Aggerbeck, L. P., McMahon, J. P., Scanu, A. M. <strong>Hypobetalipoproteinemia: clinical and biochemical description of a new kindred with Friedreich's ataxia.</strong> Neurology 24: 1051-1063, 1974.">Aggerbeck et al. (1974)</a>; <a href="#Allison1965" class="mim-tip-reference" title="Allison, A. C., Blumberg, B. S. <strong>Serum lipoprotein allotypes in man.</strong> Prog. Med. Genet. 4: 176-201, 1965.">Allison and Blumberg (1965)</a>; <a href="#Barni1986" class="mim-tip-reference" title="Barni, N., Talmud, P. J., Carlsson, P., Azoulay, M., Darnfors, C., Harding, D., Weil, D., Grzeschik, K. H., Bjursell, G., Junien, C., Williamson, R., Humphries, S. E. <strong>The isolation of genomic recombinants for the human apolipoprotein B gene and the mapping of three common DNA polymorphisms of the gene--a useful marker for human chromosome 2.</strong> Hum. Genet. 73: 313-319, 1986.">Barni et al.
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(1986)</a>; <a href="#Butler1970" class="mim-tip-reference" title="Butler, R., Brunner, E., Morganti, G., Vierucci, A., Scaloumbacas, N., Politis, E. <strong>A new factor in the Ag-system: Ag(g).</strong> Vox Sang. 18: 85-89, 1970.">Butler et al. (1970)</a>; <a href="#Butler1969" class="mim-tip-reference" title="Butler, R., Brunner, E. <strong>On the genetics of the low density lipoprotein factors Ag(c) and Ag(e).</strong> Hum. Hered. 19: 174-179, 1969.">Butler and Brunner (1969)</a>; <a href="#Carlsson1985" class="mim-tip-reference" title="Carlsson, P., Olofsson, S. O., Bondjers, G., Darnfors, C., Wiklund, O., Bjursell, G. <strong>Molecular cloning of human apolipoprotein B cDNA.</strong> Nucleic Acids Res. 13: 8813-8826, 1985.">Carlsson et
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al. (1985)</a>; <a href="#Chan1985" class="mim-tip-reference" title="Chan, L., VanTuinen, P., Ledbetter, D. H., Daiger, S. P., Gotto, A. M., Jr., Chen, S. H. <strong>The human apolipoprotein B-100 gene: a highly polymorphic gene that maps to the short arm of chromosome 2.</strong> Biochem. Biophys. Res. Commun. 133: 248-255, 1985.">Chan et al. (1985)</a>; <a href="#Cottrill1974" class="mim-tip-reference" title="Cottrill, C., Glueck, C. J., Leuba, V., Millett, F., Puppione, D., Brown, W. V. <strong>Familial homozygous hypobetalipoproteinemia.</strong> Metabolism 23: 779-792, 1974.">Cottrill et al. (1974)</a>; <a href="#Frossard1986" class="mim-tip-reference" title="Frossard, P. M., Gonzalez, P. A., Protter, A. A., Coleman, R. T., Funke, H., Assmann, G. <strong>Pvu II RFLP in the 5-prime of the human apolipoprotein B gene.</strong> Nucleic Acids Res. 14: 4373, 1986.">Frossard et
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al. (1986)</a>; <a href="#Hegele1986" class="mim-tip-reference" title="Hegele, R. A., Huang, L.-S., Herbert, P. N., Blum, C. B., Buring, J. E., Hennekens, C. H., Breslow, J. L. <strong>Apolipoprotein B-gene polymorphisms associated with myocardial infarction.</strong> New Eng. J. Med. 315: 1509-1515, 1986.">Hegele et al. (1986)</a>; <a href="#Illingworth1992" class="mim-tip-reference" title="Illingworth, D. R., Vakar, F., Mahley, R. W., Weisgraber, K. H. <strong>Hypocholesterolaemic effects of lovastatin in familial defective apolipoprotein B-100.</strong> Lancet 339: 598-600, 1992.">Illingworth et al. (1992)</a>; <a href="#Innerarity1987" class="mim-tip-reference" title="Innerarity, T. L., Young, S. G., Poksay, K. S., Mahley, R. W., Smith, R. S., Milne, R. W., Marcel, Y. L., Weisgraber, K. H. <strong>Structural relationship of human apolipoprotein B48 to apolipoprotein B100.</strong> J. Clin. Invest. 80: 1794-1798, 1987.">Innerarity et al. (1987)</a>; <a href="#Knott1986" class="mim-tip-reference" title="Knott, T. J., Wallis, S. C., Powell, L. M., Pease, R. J., Lusis, A. J., Blackhart, B., McCarthy, B. J., Mahley, R. W., Levy-Wilson, B., Scott, J. <strong>Complete cDNA and derived protein sequence of human apolipoprotein B-100.</strong> Nucleic Acids Res. 14: 7501-7503, 1986.">Knott et al. (1986)</a>; <a href="#Law1986" class="mim-tip-reference" title="Law, S. W., Grant, S. M., Higuchi, K., Hospattankar, A., Lackner, K., Lee, N., Brewer, H. B., Jr. <strong>Human liver apolipoprotein B-100 cDNA: complete nucleic acid and derived amino acid sequence.</strong> Proc. Nat. Acad. Sci. 83: 8142-8146, 1986.">Law et al. (1986)</a>; <a href="#Morganti1970" class="mim-tip-reference" title="Morganti, G., Beolchini, P. E., Butler, R., Brunner, E., Vierucci, A. <strong>Contribution to the genetics of serum beta-lipoproteins in man. IV. Evidence for the existence of the Ag(A1-D) and Ag(C-G) loci, closely linked to the Ag(X-Y) locus.</strong> Humangenetik 10: 244-253, 1970.">Morganti et al. (1970)</a>; <a href="#Protter1986" class="mim-tip-reference" title="Protter, A. A., Hardman, D. A., Schilling, J. W., Miller, J., Appleby, V., Chen, G. C., Kirsher, S. W., McEnroe, G., Kane, J. P. <strong>Isolation of a cDNA clone encoding the amino-terminal region of human apolipoprotein B.</strong> Proc. Nat. Acad. Sci. 83: 1467-1471, 1986.">Protter et al. (1986)</a>; <a href="#Protter1986" class="mim-tip-reference" title="Protter, A. A., Hardman, D. A., Schilling, J. W., Miller, J., Appleby, V., Chen, G. C., Kirsher, S. W., McEnroe, G., Kane, J. P. <strong>Isolation of a cDNA clone encoding the amino-terminal region of human apolipoprotein B.</strong> Proc. Nat. Acad. Sci. 83: 1467-1471, 1986.">Protter et al. (1986)</a>; <a href="#Shoulders1985" class="mim-tip-reference" title="Shoulders, C. C., Myant, N. B., Sidoli, A., Rodriguez, J. C., Cortese, C., Baralle, F. E., Cortese, R. <strong>Molecular cloning of human LDL apolipoprotein B cDNA: evidence for more than one gene per haploid genome.</strong> Atherosclerosis 58: 277-289, 1985.">Shoulders et al. (1985)</a>; <a href="#Talmud1988" class="mim-tip-reference" title="Talmud, P. J., Lloyd, J. K., Muller, D. P. R., Collins, D. R., Scott, J., Humphries, S. <strong>Genetic evidence from two families that the apolipoprotein B gene is not involved in abetalipoproteinemia.</strong> J. Clin. Invest. 82: 1803-1806, 1988.">Talmud et al. (1988)</a>; <a href="#Tamir1976" class="mim-tip-reference" title="Tamir, I., Levtow, O., Lotan, D., Legum, C., Heldenberg, D., Werbin, B. <strong>Further observations on familial hypobetalipoproteinemia.</strong> Clin. Genet. 9: 149-155, 1976.">Tamir et al. (1976)</a>; <a href="#Weisgraber1988" class="mim-tip-reference" title="Weisgraber, K. H., Innerarity, T. L., Newhouse, Y. M., Young, S. G., Arnold, K. S., Krauss, R. M., Vega, G. L., Grundy, S. M., Mahley, R. W. <strong>Familial defective apolipoprotein B-100: enhanced binding of monoclonal antibody MB47 to abnormal low density lipoproteins.</strong> Proc. Nat. Acad. Sci. 85: 9758-9762, 1988.">Weisgraber et al. (1988)</a>; <a href="#Yang1986" class="mim-tip-reference" title="Yang, C.-Y., Chen, S.-H., Gianturco, S. H., Bradley, W. A., Sparrow, J. T., Tanimura, M., Li, W.-H., Sparrow, D. A., DeLoof, H., Rosseneu, M., Lee, F.-S., Gu, Z.-W., Gotto, A. M., Jr., Chan, L. <strong>Sequence, structure, receptor-binding domains and internal repeats of human apolipoprotein B-100.</strong> Nature 323: 738-742, 1986.">Yang et al. (1986)</a>; <a href="#Young1987" class="mim-tip-reference" title="Young, S. G., Bertics, S. J., Curtiss, L. K., Witztum, J. L. <strong>Characterization of an abnormal species of apolipoprotein B, apolipoprotein B-37, associated with familial hypobetalipoproteinemia.</strong> J. Clin. Invest. 79: 1831-1841, 1987.">Young et al. (1987)</a>; <a href="#Young1986" class="mim-tip-reference" title="Young, S. G., Bertics, S. J., Scott, T. M., Dubois, B. W., Curtiss, L. K., Witztum, J. L. <strong>Parallel expression of the MB19 genetic polymorphism in apoprotein B-100 and apoprotein B-48: evidence that both apoproteins are products of the same gene.</strong> J. Biol. Chem. 261: 2995-2998, 1986.">Young et al. (1986)</a>
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Aggerbeck, L. P., McMahon, J. P., Scanu, A. M.
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<strong>Hypobetalipoproteinemia: clinical and biochemical description of a new kindred with Friedreich's ataxia.</strong>
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Neurology 24: 1051-1063, 1974.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4472544/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4472544</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4472544" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1212/wnl.24.11.1051" target="_blank">Full Text</a>]
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Allison, A. C., Blumberg, B. S.
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<strong>An isoprecipitation reaction distinguishing human serum-protein types.</strong>
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Lancet 277: 634-637, 1961. Note: Originally Volume I.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13682582/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13682582</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13682582" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0140-6736(61)91654-3" target="_blank">Full Text</a>]
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Allison, A. C., Blumberg, B. S.
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<strong>Serum lipoprotein allotypes in man.</strong>
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Prog. Med. Genet. 4: 176-201, 1965.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5319116/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5319116</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5319116" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Antonarakis, S. E.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 6/1987.
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Barni, N., Talmud, P. J., Carlsson, P., Azoulay, M., Darnfors, C., Harding, D., Weil, D., Grzeschik, K. H., Bjursell, G., Junien, C., Williamson, R., Humphries, S. E.
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<strong>The isolation of genomic recombinants for the human apolipoprotein B gene and the mapping of three common DNA polymorphisms of the gene--a useful marker for human chromosome 2.</strong>
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Hum. Genet. 73: 313-319, 1986.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3017840/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3017840</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3017840" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF00279093" target="_blank">Full Text</a>]
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Bednarska-Makaruk, M., Bisko, M., Pulawska, M. F., Hoffman-Zacharska, D., Rodo, M., Roszczynko, M., Solik-Tomassi, A., Broda, G., Polakowska, M., Pytlak, A., Wehr, H.
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<strong>Familial defective apolipoprotein B-100 in a group of hypercholesterolaemic patients in Poland: identification of a new mutation Thr3492Ile in the apolipoprotein B gene.</strong>
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Europ. J. Hum. Genet. 9: 836-842, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11781700/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11781700</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11781700" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/sj.ejhg.5200720" target="_blank">Full Text</a>]
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Benlian, P., de Gennes, J. L., Dairou, F., Hermelin, B., Ginon, I., Villain, E., Lagarde, J. P., Federspiel, M. C., Bertrand, V., Bernard, C., Bereziat, G.
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<strong>Phenotypic expression in double heterozygotes for familial hypercholesterolemia and familial defective apolipoprotein B-100.</strong>
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Hum. Mutat. 7: 340-345, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8723684/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8723684</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8723684" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/(SICI)1098-1004(1996)7:4<340::AID-HUMU8>3.0.CO;2-C" target="_blank">Full Text</a>]
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Benn, M., Nordestgaard, B. G., Jensen, J. S., Grande, P., Sillesen, H., Tybjaerg-Hansen, A.
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<strong>Polymorphism in APOB associated with increases low-density lipoprotein levels in both genders in the general population.</strong>
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J. Clin. Endocr. Metab. 90: 5797-5803, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16030169/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16030169</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16030169" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1210/jc.2005-0974" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="9" class="mim-anchor"></a>
|
|
<a id="Benn2007" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Benn, M., Nordestgaard, B. G., Jensen, J. S., Tybjaerg-Hansen, A.
|
|
<strong>Polymorphisms in apolipoprotein B and risk of ischemic stroke.</strong>
|
|
J. Clin. Endocr. Metab. 92: 3611-3617, 2007.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17595251/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17595251</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17595251" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1210/jc.2007-0221" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="10" class="mim-anchor"></a>
|
|
<a id="Berg1975" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Berg, K., Beckman, G., Beckman, L.
|
|
<strong>A search for linkage between the Ag and (dimeric) superoxide dismutase (SOD-1) loci.</strong>
|
|
Birth Defects Orig. Art. Ser. XI(3): 67-70, 1975. Note: Alternate: Cytogenet. Cell Genet. 14: 237-240, 1975.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="11" class="mim-anchor"></a>
|
|
<a id="Berg1976" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Berg, K., Hames, C., Dahlen, G., Frick, M. H., Krishan, I.
|
|
<strong>Genetic variation in serum low density lipoproteins and lipid levels in man.</strong>
|
|
Proc. Nat. Acad. Sci. 73: 937-940, 1976.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/176662/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">176662</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=176662" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1073/pnas.73.3.937" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="12" class="mim-anchor"></a>
|
|
<a id="Berg1986" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Berg, K., Powell, L. M., Wallis, S. C., Pease, R., Knott, T. J., Scott, J.
|
|
<strong>Genetic linkage between the antigenic group (Ag) variation and the apolipoprotein B gene: assignment of the Ag locus.</strong>
|
|
Proc. Nat. Acad. Sci. 83: 7367-7370, 1986.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2876424/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2876424</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2876424" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1073/pnas.83.19.7367" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="13" class="mim-anchor"></a>
|
|
<a id="Berger1983" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Berger, G. M. B., Brown, G., Henderson, H. E., Bonnici, F.
|
|
<strong>Apolipoprotein B detected in the plasma of a patient with homozygous hypobetalipoproteinaemia: implications for aetiology.</strong>
|
|
J. Med. Genet. 20: 189-195, 1983.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6876109/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6876109</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6876109" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1136/jmg.20.3.189" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="14" class="mim-anchor"></a>
|
|
<a id="Blumberg1964" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Blumberg, B. S., Alter, H. J., Riddell, N. M., Erlandson, M.
|
|
<strong>Multiple antigenic specificities of serum lipoproteins detected with sera of transfused patients.</strong>
|
|
Vox Sang. 9: 128-145, 1964.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14147429/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14147429</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14147429" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1111/j.1423-0410.1964.tb03672.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="15" class="mim-anchor"></a>
|
|
<a id="Blumberg1963" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Blumberg, B. S., Riddell, N. M.
|
|
<strong>Inherited antigenic differences in human serum beta lipoproteins: a second antiserum.</strong>
|
|
J. Clin. Invest. 42: 867-875, 1963.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13971876/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13971876</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13971876" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1172/JCI104779" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="16" class="mim-anchor"></a>
|
|
<a id="Blumberg1978" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Blumberg, B. S.
|
|
<strong>Personal Communication.</strong>
|
|
Philadelphia, Penn. 5/16/1978.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="17" class="mim-anchor"></a>
|
|
<a id="Boehnke1991" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Boehnke, M.
|
|
<strong>Allele frequency estimation from data on relatives.</strong>
|
|
Am. J. Hum. Genet. 48: 22-25, 1991.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1985459/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1985459</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1985459" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="18" class="mim-anchor"></a>
|
|
<a id="Boerwinkle1989" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Boerwinkle, E., Xiong, W., Fourest, E., Chan, L.
|
|
<strong>Rapid typing of tandemly repeated hypervariable loci by the polymerase chain reaction: application to the apolipoprotein B 3-prime hypervariable region.</strong>
|
|
Proc. Nat. Acad. Sci. 86: 212-216, 1989.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2911570/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2911570</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2911570" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1073/pnas.86.1.212" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="19" class="mim-anchor"></a>
|
|
<a id="Boren2001" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Boren, J., Ekstrom, U., Agren, B., Nilsson-Ehle, P., Innerarity, T. L.
|
|
<strong>The molecular mechanism for the genetic disorder familial defective apolipoprotein B100.</strong>
|
|
J. Biol. Chem. 276: 9214-9218, 2001.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11115503/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11115503</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11115503" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1074/jbc.M008890200" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="20" class="mim-anchor"></a>
|
|
<a id="Boren1998" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Boren, J., Lee, I., Zhu, W., Arnold, K., Taylor, S., Innerarity, T. L.
|
|
<strong>Identification of the low density lipoprotein receptor-binding site in apolipoprotein B100 and the modulation of its binding activity by the carboxyl terminus in familial defective apo-B100.</strong>
|
|
J. Clin. Invest. 101: 1084-1093, 1998.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9486979/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9486979</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9486979" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1172/JCI1847" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="21" class="mim-anchor"></a>
|
|
<a id="Breguet1990" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Breguet, G., Butler, R., Butler-Brunner, E., Sanchez-Mazas, A.
|
|
<strong>A worldwide population study of the Ag-system haplotypes: a genetic polymorphism of human low-density lipoprotein.</strong>
|
|
Am. J. Hum. Genet. 46: 502-517, 1990.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1689953/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1689953</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1689953" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="22" class="mim-anchor"></a>
|
|
<a id="Butler1970" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Butler, R., Brunner, E., Morganti, G., Vierucci, A., Scaloumbacas, N., Politis, E.
|
|
<strong>A new factor in the Ag-system: Ag(g).</strong>
|
|
Vox Sang. 18: 85-89, 1970.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4984720/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4984720</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4984720" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1111/j.1423-0410.1970.tb01435.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="23" class="mim-anchor"></a>
|
|
<a id="Butler1969" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Butler, R., Brunner, E.
|
|
<strong>On the genetics of the low density lipoprotein factors Ag(c) and Ag(e).</strong>
|
|
Hum. Hered. 19: 174-179, 1969.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5808059/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5808059</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5808059" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1159/000152214" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="24" class="mim-anchor"></a>
|
|
<a id="Callow1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Callow, M. J., Verstuyft, J., Tangirala, R., Palinski, W., Rubin, E. M.
|
|
<strong>Atherogenesis in transgenic mice with human apolipoprotein B and lipoprotein(a).</strong>
|
|
J. Clin. Invest. 96: 1639-1646, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7657833/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7657833</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7657833" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1172/JCI118203" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="25" class="mim-anchor"></a>
|
|
<a id="Carlsson1985" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Carlsson, P., Olofsson, S. O., Bondjers, G., Darnfors, C., Wiklund, O., Bjursell, G.
|
|
<strong>Molecular cloning of human apolipoprotein B cDNA.</strong>
|
|
Nucleic Acids Res. 13: 8813-8826, 1985.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3841204/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3841204</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3841204" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1093/nar/13.24.8813" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="26" class="mim-anchor"></a>
|
|
<a id="Chan1985" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Chan, L., VanTuinen, P., Ledbetter, D. H., Daiger, S. P., Gotto, A. M., Jr., Chen, S. H.
|
|
<strong>The human apolipoprotein B-100 gene: a highly polymorphic gene that maps to the short arm of chromosome 2.</strong>
|
|
Biochem. Biophys. Res. Commun. 133: 248-255, 1985.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4074366/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4074366</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4074366" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0006-291x(85)91868-6" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="27" class="mim-anchor"></a>
|
|
<a id="Chen1987" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Chen, S.-H., Habib, G., Yang, C.-Y., Gu, Z.-W., Lee, B. R., Weng, S., Silberman, S. R., Cai, S.-J., Deslypere, J. P., Rosseneu, M., Gotto, A. M., Jr., Li, W.-H., Chan, L.
|
|
<strong>Apolipoprotein B-48 is the product of a messenger RNA with an organ-specific in-frame stop codon.</strong>
|
|
Science 238: 363-366, 1987.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3659919/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3659919</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3659919" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1126/science.3659919" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="28" class="mim-anchor"></a>
|
|
<a id="Chen1986" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Chen, S.-H., Yang, C.-Y., Chen, P.-F., Setzer, D., Tanimura, M., Li, W. H., Gotto, A. M., Jr., Chan, L.
|
|
<strong>The complete cDNA and amino acid sequence of human apolipoprotein B-100.</strong>
|
|
J. Biol. Chem. 261: 12918-12921, 1986.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3759943/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3759943</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3759943" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="29" class="mim-anchor"></a>
|
|
<a id="Cladaras1986" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Cladaras, C., Hadzopoulou-Cladaras, M., Nolte, R. T., Atkinson, D., Zannis, V. I.
|
|
<strong>The complete sequence and structural analysis of human apolipoprotein B-100: relationship between apoB-100 and apoB-48 forms.</strong>
|
|
EMBO J. 5: 3495-3507, 1986.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3030729/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3030729</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3030729" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/j.1460-2075.1986.tb04675.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="30" class="mim-anchor"></a>
|
|
<a id="Collins1988" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Collins, D. R., Knott, T. J., Pease, R. J., Powell, L. M., Wallis, S. C., Robertson, S., Pullinger, C. R., Milne, R. W., Marcel, Y. L., Humphries, S. E., Talmud, P. J., Lloyd, J. K., Miller, N. E., Muller, D., Scott, J.
|
|
<strong>Truncated variants of apolipoprotein B cause hypobetalipoproteinaemia.</strong>
|
|
Nucleic Acids Res. 16: 8361-8375, 1988.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2843815/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2843815</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2843815" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1093/nar/16.17.8361" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="31" class="mim-anchor"></a>
|
|
<a id="Coresh1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Coresh, J., Beaty, T. H., Kwiterovich, P. O., Jr., Antonarakis, S. E.
|
|
<strong>Pedigree and sib-pair linkage analysis suggest the apolipoprotein B gene is not the major gene influencing plasma apolipoprotein B levels.</strong>
|
|
Am. J. Hum. Genet. 50: 1038-1045, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1570833/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1570833</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1570833" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="32" class="mim-anchor"></a>
|
|
<a id="Corsini1989" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Corsini, A., Fantappie, S., Granata, A., Bernini, F., Catapano, A. L., Fumagalli, R., Romano, L., Romano, C.
|
|
<strong>Binding-defective low-density lipoprotein in family with hypercholesterolaemia.(Letter)</strong>
|
|
Lancet 339: 623 only, 1989. Note: Originally Volume I.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2564152/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2564152</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2564152" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/s0140-6736(89)91659-0" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="33" class="mim-anchor"></a>
|
|
<a id="Cottrill1974" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Cottrill, C., Glueck, C. J., Leuba, V., Millett, F., Puppione, D., Brown, W. V.
|
|
<strong>Familial homozygous hypobetalipoproteinemia.</strong>
|
|
Metabolism 23: 779-792, 1974.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4368720/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4368720</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4368720" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0026-0495(74)90010-9" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="34" class="mim-anchor"></a>
|
|
<a id="Deeb1986" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Deeb, S. S., Disteche, C., Motulsky, A. G., Lebo, R. V., Kan, Y. W.
|
|
<strong>Chromosomal localization of the human apolipoprotein B gene and detection of homologous RNA in monkey intestine.</strong>
|
|
Proc. Nat. Acad. Sci. 83: 419-422, 1986.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3455779/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3455779</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3455779" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1073/pnas.83.2.419" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="35" class="mim-anchor"></a>
|
|
<a id="Demant1988" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Demant, T., Houlston, R. S., Caslake, M. J., Series, J. J., Shepherd, J., Packard, C. J., Humphries, S. E.
|
|
<strong>Catabolic rate of low density lipoprotein is influenced by variation in the apolipoprotein B gene.</strong>
|
|
J. Clin. Invest. 82: 797-802, 1988.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2901432/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2901432</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2901432" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1172/JCI113681" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="36" class="mim-anchor"></a>
|
|
<a id="Di Leo2007" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Di Leo, E., Magnolo, L., Lancellotti, S., Croce, L., Visintin, L., Tiribelli, C., Bertolini, S., Calandra, S., Tarugi, P.
|
|
<strong>Abnormal apolipoprotein B pre-mRNA splicing in patients with familial hypobetalipoproteinemia. (Letter)</strong>
|
|
J. Med. Genet. 44: 219-224, 2007.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17158591/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17158591</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17158591[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17158591" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1136/jmg.2006.046359" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="37" class="mim-anchor"></a>
|
|
<a id="Dunning1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Dunning, A. M., Renges, H.-H., Xu, C.-F., Peacock, R., Brasseur, R., Laxer, G., Tikkanen, M. J., Butler, R., Saha, N., Hamsten, A., Rosseneu, M., Talmud, P., Humphries, S. E.
|
|
<strong>Two amino acid substitutions in apolipoprotein B are in complete allelic association with the antigen group (x/y) polymorphism: evidence for little recombination in the 3-prime end of the human gene.</strong>
|
|
Am. J. Hum. Genet. 50: 208-221, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1370364/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1370364</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1370364" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="38" class="mim-anchor"></a>
|
|
<a id="Espinosa-Heidmann2004" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Espinosa-Heidmann, D. G., Sall, J., Hernandez, E. P., Cousins, S. W.
|
|
<strong>Basal laminar deposit formation in APO B100 transgenic mice: complex interactions between dietary fat, blue light, and vitamin E.</strong>
|
|
Invest. Ophthal. Vis. Sci. 45: 260-266, 2004.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14691182/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14691182</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14691182" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1167/iovs.03-0910" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="39" class="mim-anchor"></a>
|
|
<a id="Farese1996" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Farese, R. V., Jr., Veniant, M. M., Cham, C. M., Flynn, L. M., Pierotti, V., Loring, J. F., Traber, M., Ruland, S., Stokowski, R. S., Huszar, D., Young, S. G.
|
|
<strong>Phenotypic analysis of mice expressing exclusively apolipoprotein B48 or apolipoprotein B100.</strong>
|
|
Proc. Nat. Acad. Sci. 93: 6393-6398, 1996.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8692825/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8692825</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8692825" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1073/pnas.93.13.6393" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="40" class="mim-anchor"></a>
|
|
<a id="Feussner1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Feussner, G., Schuster, H.
|
|
<strong>Screening for the apolipoprotein B-100 arginine3500-to-glutamine mutation in patients with type III hyperlipoproteinemia.</strong>
|
|
Clin. Genet. 42: 302-305, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1493642/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1493642</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1493642" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1111/j.1399-0004.1992.tb03260.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="41" class="mim-anchor"></a>
|
|
<a id="Friedlander1993" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Friedlander, Y., Dann, E. J., Leitersdorf, E.
|
|
<strong>Absence of familial defective apolipoprotein B-100 in Israeli patients with dominantly inherited hypercholesterolemia and in offspring with parental history of myocardial infarction.(Letter)</strong>
|
|
Hum. Genet. 91: 299-300, 1993.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8478017/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8478017</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8478017" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/BF00218280" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="42" class="mim-anchor"></a>
|
|
<a id="Frossard1986" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Frossard, P. M., Gonzalez, P. A., Protter, A. A., Coleman, R. T., Funke, H., Assmann, G.
|
|
<strong>Pvu II RFLP in the 5-prime of the human apolipoprotein B gene.</strong>
|
|
Nucleic Acids Res. 14: 4373, 1986.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3012469/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3012469</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3012469" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1093/nar/14.10.4373" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="43" class="mim-anchor"></a>
|
|
<a id="Fujihara2009" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Fujihara, M., Bartels, E., Nielsen, L. B., Handa, J. T.
|
|
<strong>A human apoB100 transgenic mouse expresses human apoB100 in the RPE and develops features of early AMD.</strong>
|
|
Exp. Eye Res. 88: 1115-1123, 2009.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19450445/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19450445</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19450445[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19450445" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/j.exer.2009.01.017" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="44" class="mim-anchor"></a>
|
|
<a id="Gabelli1996" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Gabelli, C., Bilato, C., Martini, S., Tennyson, G. E., Zech, L. A., Corsini, A., Albanese, M., Brewer, H. B., Jr., Crepaldi, G., Baggio, G.
|
|
<strong>Homozygous familial hypobetalipoproteinemia: increased LDL catabolism in hypobetalipoproteinemia due to a truncated apolipoprotein B species, apo B-87-Padova.</strong>
|
|
Arterioscler. Thromb. Vasc. Biol. 16: 1189-1196, 1996.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8792774/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8792774</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8792774" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1161/01.atv.16.9.1189" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="45" class="mim-anchor"></a>
|
|
<a id="Gangloff2011" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Gangloff, A., Bergeron, J., Couture, P., Martins, R., Hegele, R. A., Gagne, C.
|
|
<strong>A novel mutation of apolipoprotein B in a French Canadian family with homozygous hypobetalipoproteinemia.</strong>
|
|
J. Clin. Lipidol. 5: 414-417, 2011.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21981844/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21981844</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21981844" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/j.jacl.2011.06.014" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="46" class="mim-anchor"></a>
|
|
<a id="Gavish1989" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Gavish, D., Brinton, E. A., Breslow, J. L.
|
|
<strong>Heritable allele-specific differences in amounts of apoB and low-density lipoproteins in plasma.</strong>
|
|
Science 244: 72-76, 1989.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2565046/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2565046</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2565046" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1126/science.2565046" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="47" class="mim-anchor"></a>
|
|
<a id="Glickman1986" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Glickman, R. M., Rogers, M., Glickman, J. N.
|
|
<strong>Apolipoprotein B synthesis by human liver and intestine in vitro.</strong>
|
|
Proc. Nat. Acad. Sci. 83: 5296-5300, 1986.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3460091/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3460091</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3460091" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1073/pnas.83.14.5296" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="48" class="mim-anchor"></a>
|
|
<a id="Hamalainen1990" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Hamalainen, T., Palotie, A., Aalto-Setala, K., Kontula, K., Tikkanen, M. J.
|
|
<strong>Absence of familial defective apolipoprotein B-100 in Finnish patients with elevated serum cholesterol.</strong>
|
|
Atherosclerosis 82: 177-183, 1990.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2375782/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2375782</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2375782" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0021-9150(90)90038-k" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="49" class="mim-anchor"></a>
|
|
<a id="Harano1989" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Harano, Y., Kojima, H., Nakano, T., Harada, M., Kashiwagi, A., Nakajima, Y., Hidaka, T. H., Ohtsuki, T., Suzuki, T., Tamura, A., Fujii, T., Nishimura, T., Ohtaka, T., Shigeta, Y.
|
|
<strong>Homozygous hypobetalipoproteinemia with spared chylomicron formation.</strong>
|
|
Metabolism 38: 1-7, 1989.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2909827/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2909827</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2909827" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0026-0495(89)90172-8" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="50" class="mim-anchor"></a>
|
|
<a id="Hardman1987" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Hardman, D. A., Protter, A. A., Chen, G. C., Schilling, J. W., Sato, K. Y., Lau, K., Yamanaka, M., Mikita, T., Miller, J., Crisp, T., McEnroe, G., Scarborough, R. M., Kane, J. P.
|
|
<strong>Structural comparisons of human apolipoproteins B-48 and B-100.</strong>
|
|
Biochemistry 26: 5478-5486, 1987.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3676265/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3676265</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3676265" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1021/bi00391a040" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="51" class="mim-anchor"></a>
|
|
<a id="Hardman1991" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Hardman, D. A., Pullinger, C. R., Hamilton, R. L., Kane, J. P., Malloy, M. J.
|
|
<strong>Molecular and metabolic basis for the metabolic disorder normotriglyceridemic abetalipoproteinemia.</strong>
|
|
J. Clin. Invest. 88: 1722-1729, 1991.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1939657/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1939657</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1939657" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1172/JCI115490" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="52" class="mim-anchor"></a>
|
|
<a id="Hegele1986" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Hegele, R. A., Huang, L.-S., Herbert, P. N., Blum, C. B., Buring, J. E., Hennekens, C. H., Breslow, J. L.
|
|
<strong>Apolipoprotein B-gene polymorphisms associated with myocardial infarction.</strong>
|
|
New Eng. J. Med. 315: 1509-1515, 1986.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3024002/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3024002</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3024002" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1056/NEJM198612113152403" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="53" class="mim-anchor"></a>
|
|
<a id="Hegele2002" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Hegele, R. A., Miskie, B. A.
|
|
<strong>Acanthocytosis in a patient with homozygous familial hypobetalipoproteinemia due to a novel APOB splice site mutation.</strong>
|
|
Clin. Genet. 61: 101-103, 2002.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11940084/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11940084</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11940084" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1034/j.1399-0004.2002.610204.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="54" class="mim-anchor"></a>
|
|
<a id="Herbert1985" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Herbert, P. N., Hyams, J. S., Bernier, D. N., Berman, M. M., Saritelli, A. L., Lynch, K. M., Nichols, A. V., Forte, T. M.
|
|
<strong>Apolipoprotein B-100 deficiency: intestinal steatosis despite apolipoprotein B-48 synthesis.</strong>
|
|
J. Clin. Invest. 76: 403-412, 1985.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4031057/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4031057</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4031057" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1172/JCI111986" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="55" class="mim-anchor"></a>
|
|
<a id="Higuchi1988" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Higuchi, K., Hospattankar, A. V., Law, S. W., Meglin, N., Cortright, J., Brewer, H. B., Jr.
|
|
<strong>Human apolipoprotein B (apoB) mRNA: identification of two distinct apoB mRNAs, an mRNA with the apoB-100 sequence and an apoB mRNA containing a premature in-frame translational stop codon, in both liver and intestine.</strong>
|
|
Proc. Nat. Acad. Sci. 85: 1772-1776, 1988.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2450346/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2450346</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2450346" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1073/pnas.85.6.1772" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="56" class="mim-anchor"></a>
|
|
<a id="Homanics1993" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Homanics, G. E., Smith, T. J., Zhang, S. H., Lee, D., Young, S. G., Maeda, N.
|
|
<strong>Targeted modification of the apolipoprotein B gene results in hypobetalipoproteinemia and developmental abnormalities in mice.</strong>
|
|
Proc. Nat. Acad. Sci. 90: 2389-2393, 1993.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8460149/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8460149</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8460149" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1073/pnas.90.6.2389" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="57" class="mim-anchor"></a>
|
|
<a id="Homer2005" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Homer, V. M., George, P. M., du Toit, S., Davidson, J. S., Wilson, C. J.
|
|
<strong>Mental retardation and ataxia due to normotriglyceridemic hypobetalipoproteinemia.</strong>
|
|
Ann. Neurol. 58: 160-163, 2005.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15984016/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15984016</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15984016" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/ana.20531" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="58" class="mim-anchor"></a>
|
|
<a id="Horvath2001" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Horvath, A., Savov, A., Kirov, S., Karshelova, E., Paskaleva, I., Goudev, A., Ganev, V.
|
|
<strong>High frequency of the ApoB-100 R3500Q mutation in Bulgarian hypercholesterolaemic subjects.</strong>
|
|
J. Med. Genet. 38: 536-540, 2001. Note: Erratum: J. Med. Genet. 39: 303 only, 2002.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11494965/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11494965</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11494965" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1136/jmg.38.8.536" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="59" class="mim-anchor"></a>
|
|
<a id="Hospattankar1986" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Hospattankar, A. V., Fairwell, T., Meng, M., Ronan, R., Brewer, H. B., Jr.
|
|
<strong>Identification of sequence homology between human plasma apolipoprotein B-100 and apolipoprotein B-48.</strong>
|
|
J. Biol. Chem. 261: 9102-9104, 1986.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3522585/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3522585</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3522585" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="60" class="mim-anchor"></a>
|
|
<a id="Huang1986" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Huang, L.-S., Miller, D. A., Bruns, G. A. P., Breslow, J. L.
|
|
<strong>Mapping of the human APOB gene to chromosome 2p and demonstration of a two-allele restriction fragment length polymorphism.</strong>
|
|
Proc. Nat. Acad. Sci. 83: 644-648, 1986.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3003743/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3003743</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3003743" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1073/pnas.83.3.644" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="61" class="mim-anchor"></a>
|
|
<a id="Huang1989" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Huang, L.-S., Ripps, M. E., Korman, S. H., Deckelbaum, R. J., Breslow, J. L.
|
|
<strong>Hypobetalipoproteinemia due to an apolipoprotein B gene exon 21 deletion derived by Alu-Alu recombination.</strong>
|
|
J. Biol. Chem. 264: 11394-11400, 1989.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2567736/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2567736</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2567736" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="62" class="mim-anchor"></a>
|
|
<a id="Huang1996" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Huang, L.-S., Voyiaziakis, E., Chen, H. L., Rubin, E. M., Gordon, J. W.
|
|
<strong>A novel functional role for apolipoprotein B in male infertility in heterozygous apolipoprotein B knockout mice.</strong>
|
|
Proc. Nat. Acad. Sci. 93: 10903-10907, 1996.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8855280/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8855280</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8855280" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1073/pnas.93.20.10903" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="63" class="mim-anchor"></a>
|
|
<a id="Huang1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Huang, L.-S., Voyiaziakis, E., Markenson, D. F., Sokol, K. A., Hayek, T., Breslow, J. L.
|
|
<strong>apo B gene knockout in mice results in embryonic lethality in homozygotes and neural tube defects, male infertility, and reduced HDL cholesterol ester and apo A-1 transport rates in heterozygotes.</strong>
|
|
J. Clin. Invest. 96: 2152-2161, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7593600/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7593600</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7593600" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1172/JCI118269" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="64" class="mim-anchor"></a>
|
|
<a id="Huijgen2010" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Huijgen, R., Kindt, I., Fouchier, S. W., Defesche, J. C., Hutten, B. A., Kastelein, J. J. P., Vissers, M. N.
|
|
<strong>Functionality of sequence variants in the genes coding for the low-density lipoprotein receptor and apolipoprotein B in individuals with inherited hypercholesterolemia.</strong>
|
|
Hum. Mutat. 31: 752-760, 2010.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20506408/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20506408</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20506408" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/humu.21258" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="65" class="mim-anchor"></a>
|
|
<a id="Illingworth1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Illingworth, D. R., Vakar, F., Mahley, R. W., Weisgraber, K. H.
|
|
<strong>Hypocholesterolaemic effects of lovastatin in familial defective apolipoprotein B-100.</strong>
|
|
Lancet 339: 598-600, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1347103/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1347103</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1347103" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0140-6736(92)90875-4" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="66" class="mim-anchor"></a>
|
|
<a id="Innerarity1987" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Innerarity, T. L., Weisgraber, K. H., Arnold, K. S., Mahley, R. W., Krauss, R. M., Vega, G. L., Grundy, S. M.
|
|
<strong>Familial defective apolipoprotein B-100: low density lipoproteins with abnormal receptor binding.</strong>
|
|
Proc. Nat. Acad. Sci. 84: 6919-6923, 1987.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3477815/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3477815</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3477815" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1073/pnas.84.19.6919" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="67" class="mim-anchor"></a>
|
|
<a id="Innerarity1987" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Innerarity, T. L., Young, S. G., Poksay, K. S., Mahley, R. W., Smith, R. S., Milne, R. W., Marcel, Y. L., Weisgraber, K. H.
|
|
<strong>Structural relationship of human apolipoprotein B48 to apolipoprotein B100.</strong>
|
|
J. Clin. Invest. 80: 1794-1798, 1987.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3680528/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3680528</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3680528" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1172/JCI113273" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="68" class="mim-anchor"></a>
|
|
<a id="Jackson1974" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Jackson, L., Falk, C. T., Allen, F. H., Jr., Barr, M.
|
|
<strong>A possible gene assignment to chromosome 21.</strong>
|
|
Cytogenet. Cell Genet. 13: 100-102, 1974.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4363864/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4363864</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4363864" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1159/000130246" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="69" class="mim-anchor"></a>
|
|
<a id="Kairamkonda2003" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kairamkonda, V., Dalzell, M.
|
|
<strong>Unusual presentation of three siblings with familial heterozygous hypobetalipoproteinaemia.</strong>
|
|
Europ. J. Pediat. 162: 129-131, 2003.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12655413/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12655413</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12655413" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/s00431-002-1123-5" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="70" class="mim-anchor"></a>
|
|
<a id="Kathiresan2008" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kathiresan, S., Melander, O., Anevski, D., Guiducci, C., Burtt, N. P., Roos, C., Hirschhorn, J. N., Berglund, G., Hedblad, B., Groop, L., Altshuler, D. M., Newton-Cheh, C., Orho-Melander, M.
|
|
<strong>Polymorphisms associated with cholesterol and risk of cardiovascular events.</strong>
|
|
New Eng. J. Med. 358: 1240-1249, 2008.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18354102/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18354102</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18354102" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1056/NEJMoa0706728" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="71" class="mim-anchor"></a>
|
|
<a id="Knott1986" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Knott, T. J., Pease, R. J., Powell, L. M., Wallis, S. C., Rall, S. C., Jr., Innerarity, T. L., Blackhart, B., Taylor, W. H., Marcel, Y., Milne, R., Johnson, D., Fuller, M., Lusis, A. J., McCarthy, B. J., Mahley, R. W., Levy-Wilson, B., Scott, J.
|
|
<strong>Complete protein sequence and identification of structural domains of human apolipoprotein B.</strong>
|
|
Nature 323: 734-738, 1986.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3773997/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3773997</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3773997" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/323734a0" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="72" class="mim-anchor"></a>
|
|
<a id="Knott1985" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Knott, T. J., Rall, S. C., Jr., Innerarity, T. L., Jacobson, S. F., Urdea, M. S., Levy-Wilson, B., Powell, L. M., Pease, R. J., Eddy, R., Nakai, H., Byers, M., Priestley, L. M., Robertson, E., Rall, L. B., Betsholtz, C., Shows, T. B., Mahley, R. W., Scott, J.
|
|
<strong>Human apolipoprotein B: structure of carboxyl-terminal domains, sites of gene expression, and chromosomal localization.</strong>
|
|
Science 230: 37-43, 1985.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2994225/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2994225</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2994225" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1126/science.2994225" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="73" class="mim-anchor"></a>
|
|
<a id="Knott1986" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Knott, T. J., Wallis, S. C., Powell, L. M., Pease, R. J., Lusis, A. J., Blackhart, B., McCarthy, B. J., Mahley, R. W., Levy-Wilson, B., Scott, J.
|
|
<strong>Complete cDNA and derived protein sequence of human apolipoprotein B-100.</strong>
|
|
Nucleic Acids Res. 14: 7501-7503, 1986.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3763409/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3763409</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3763409" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1093/nar/14.18.7501" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="74" class="mim-anchor"></a>
|
|
<a id="Krul1989" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Krul, E. S., Kinoshita, M., Talmud, P., Humphries, S. E., Turner, S., Goldberg, A. C., Cook, K., Boerwinkle, E., Schonfeld, G.
|
|
<strong>Two distinct truncated apolipoprotein B species in a kindred with hypobetalipoproteinemia.</strong>
|
|
Arteriosclerosis 9: 856-868, 1989.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2574033/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2574033</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2574033" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1161/01.atv.9.6.856" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="75" class="mim-anchor"></a>
|
|
<a id="Lau1994" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Lau, P. P., Zhu, H.-J., Baldini, A., Charnsangavej, C., Chan, L.
|
|
<strong>Dimeric structure of a human apolipoprotein B mRNA editing protein and cloning and chromosomal localization of its gene.</strong>
|
|
Proc. Nat. Acad. Sci. 91: 8522-8526, 1994.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8078915/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8078915</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8078915" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1073/pnas.91.18.8522" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="76" class="mim-anchor"></a>
|
|
<a id="Law1986" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Law, A., Wallis, S. C., Powell, L. M., Pease, R. J., Brunt, H., Priestley, L. M., Knott, T. J., Scott, J., Altman, D. G., Miller, G. J., Rajput, J., Miller, N. E.
|
|
<strong>Common DNA polymorphism within coding sequence of apolipoprotein B gene associated with altered lipid levels.</strong>
|
|
Lancet 327: 1301-1303, 1986. Note: Originally Volume I.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2872432/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2872432</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2872432" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/s0140-6736(86)91222-5" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="77" class="mim-anchor"></a>
|
|
<a id="Law1986" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Law, S. W., Grant, S. M., Higuchi, K., Hospattankar, A., Lackner, K., Lee, N., Brewer, H. B., Jr.
|
|
<strong>Human liver apolipoprotein B-100 cDNA: complete nucleic acid and derived amino acid sequence.</strong>
|
|
Proc. Nat. Acad. Sci. 83: 8142-8146, 1986.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3464946/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3464946</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3464946" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1073/pnas.83.21.8142" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="78" class="mim-anchor"></a>
|
|
<a id="Law1985" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Law, S. W., Lackner, K. J., Hospattankar, A. V., Anchors, J. M., Sakaguchi, A. Y., Naylor, S. L., Brewer, H. B., Jr.
|
|
<strong>Human apolipoprotein B-100: cloning, analysis of liver mRNA, and assignment of the gene to chromosome 2.</strong>
|
|
Proc. Nat. Acad. Sci. 82: 8340-8344, 1985.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3001697/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3001697</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3001697" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1073/pnas.82.24.8340" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="79" class="mim-anchor"></a>
|
|
<a id="Leppert1988" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Leppert, M., Breslow, J. L., Wu, L., Hasstedt, S., O'Connell, P., Lathrop, M., Williams, R. R., White, R., Lalouel, J.-M.
|
|
<strong>Inference of a molecular defect of apolipoprotein B in hypobetalipoproteinemia by linkage analysis in a large kindred.</strong>
|
|
J. Clin. Invest. 82: 847-851, 1988.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2901434/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2901434</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2901434" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1172/JCI113688" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="80" class="mim-anchor"></a>
|
|
<a id="Linton1993" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Linton, M. F., Farese, R. V., Jr., Young, S. G.
|
|
<strong>Familial hypobetalipoproteinemia.</strong>
|
|
J. Lipid Res. 34: 521-541, 1993.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8496659/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8496659</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8496659" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="81" class="mim-anchor"></a>
|
|
<a id="Linton1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Linton, M. F., Pierotti, V., Young, S. G.
|
|
<strong>Reading-frame restoration with an apolipoprotein B gene frameshift mutation.</strong>
|
|
Proc. Nat. Acad. Sci. 89: 11431-11435, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1454832/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1454832</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1454832" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1073/pnas.89.23.11431" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="82" class="mim-anchor"></a>
|
|
<a id="Loux1993" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Loux, N., Saint-Jore, B., Collod, G., Benlian, P., Cambou, J. P., Denat, M., Junien, C., Boileau, C.
|
|
<strong>Identification of the haplotype associated with the APOB-3500 mutation in a French hypercholesterolemic subject: further support for a unique European ancestral mutation.</strong>
|
|
Hum. Mutat. 2: 145-147, 1993.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8318993/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8318993</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8318993" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/humu.1380020216" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="83" class="mim-anchor"></a>
|
|
<a id="Ludwig1989" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ludwig, E. H., Friedl, W., McCarthy, B. J.
|
|
<strong>High-resolution analysis of a hypervariable region in the human apolipoprotein B gene.</strong>
|
|
Am. J. Hum. Genet. 45: 458-464, 1989.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2773938/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2773938</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2773938" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="84" class="mim-anchor"></a>
|
|
<a id="Ludwig1990" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ludwig, E. H., McCarthy, B. J.
|
|
<strong>Haplotype analysis of the human apolipoprotein B mutation associated with familial defective apolipoprotein B100.</strong>
|
|
Am. J. Hum. Genet. 47: 712-720, 1990.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1977310/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1977310</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1977310" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="85" class="mim-anchor"></a>
|
|
<a id="Lusis1985" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Lusis, A. J., West, R., Mehrabian, M., Reuben, M. A., LeBoeuf, R. C., Kaptein, J. S., Johnson, D. F., Schumaker, V. N., Yuhasz, M. P., Schotz, M. C., Elovson, J.
|
|
<strong>Cloning and expression of apolipoprotein B, the major protein of low and very low density lipoproteins.</strong>
|
|
Proc. Nat. Acad. Sci. 82: 4597-4601, 1985.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3860811/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3860811</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3860811" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1073/pnas.82.14.4597" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="86" class="mim-anchor"></a>
|
|
<a id="Malloy1981" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Malloy, M. J., Kane, J. P., Hardman, D. A., Hamilton, R. L., Dalal, K. B.
|
|
<strong>Normotriglyceridemic abetalipoproteinemia: absence of the B-100 apolipoprotein.</strong>
|
|
J. Clin. Invest. 67: 1441-1450, 1981.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7229035/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7229035</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7229035" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1172/jci110173" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="87" class="mim-anchor"></a>
|
|
<a id="Marz1993" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Marz, W., Baumstark, M. W., Scharnagl, H., Ruzicka, V., Buxbaum, S., Herwig, J., Pohl, T., Russ, A., Schaaf, L., Berg, A., Bohles, H.-J., Usadel, K. H., Gro, W.
|
|
<strong>Accumulation of 'small dense' low density lipoproteins (LDL) in a homozygous patient with familial defective apolipoprotein B-100 results from heterogenous interaction of LDL subfractions with the LDL receptor.</strong>
|
|
J. Clin. Invest. 92: 2922-2933, 1993.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8254047/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8254047</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8254047" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1172/JCI116915" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="88" class="mim-anchor"></a>
|
|
<a id="Marz1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Marz, W., Ruzicka, C., Pohl, T., Usadel, K. H., Gross, W.
|
|
<strong>Familial defective apolipoprotein B-100: mild hypercholesterolaemia without atherosclerosis in a homozygous patient.(Letter)</strong>
|
|
Lancet 340: 1362, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1360085/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1360085</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1360085" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0140-6736(92)92554-s" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="89" class="mim-anchor"></a>
|
|
<a id="McCormick1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
McCormick, S. P. A., Fellowes, A. P., Walmsley, T. A., George, P. M.
|
|
<strong>Apolipoprotein B-32: a new truncated mutant of human apolipoprotein B capable of forming particles in the low density lipoprotein range.</strong>
|
|
Biochim. Biophys. Acta 1138: 290-296, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1562615/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1562615</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1562615" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0925-4439(92)90006-9" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="90" class="mim-anchor"></a>
|
|
<a id="Mehrabian1986" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Mehrabian, M., Sparkes, R. S., Mohandas, T., Klisak, I. J., Schumaker, V. N., Heinzmann, C., Zollman, S., Ma, Y., Lusis, A. J.
|
|
<strong>Human apolipoprotein B: chromosomal mapping and DNA polymorphisms of hepatic and intestinal species.</strong>
|
|
Somat. Cell Molec. Genet. 12: 245-254, 1986.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3012797/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3012797</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3012797" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/BF01570783" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="91" class="mim-anchor"></a>
|
|
<a id="Morganti1975" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Morganti, G., Beolchini, P. B., Butler, R., Butler-Brunner, E., Vierucci, A.
|
|
<strong>Contribution to the genetics of serum beta-lipoproteins in man. VIII. Linkage of the Ag(h-i)locus with the Ag(x-y), Ag(a1-d), Ag(c-g), and Ag(t-z) loci.</strong>
|
|
Humangenetik 30: 341-342, 1975.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/176106/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">176106</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=176106" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/BF00275148" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="92" class="mim-anchor"></a>
|
|
<a id="Morganti1970" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Morganti, G., Beolchini, P. E., Butler, R., Brunner, E., Vierucci, A.
|
|
<strong>Contribution to the genetics of serum beta-lipoproteins in man. IV. Evidence for the existence of the Ag(A1-D) and Ag(C-G) loci, closely linked to the Ag(X-Y) locus.</strong>
|
|
Humangenetik 10: 244-253, 1970.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5475509/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5475509</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5475509" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/BF00295787" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="93" class="mim-anchor"></a>
|
|
<a id="Myant1997" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Myant, N. B., Forbes, S. A., Day, I. N. M., Gallaghers, J.
|
|
<strong>Estimation of the age of the ancestral arginine3500-to-glutamine mutation in human apoB-100.</strong>
|
|
Genomics 45: 78-87, 1997.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9339363/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9339363</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9339363" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1006/geno.1997.4898" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="94" class="mim-anchor"></a>
|
|
<a id="Naganawa1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Naganawa, S., Kodama, T., Aburatani, H., Matsumoto, A., Itakura, H., Takashima, Y., Kawamura, M., Muto, Y.
|
|
<strong>Genetic analysis of a Japanese family with normotriglyceridemic abetalipoproteinemia indicates a lack of linkage to the apolipoprotein B gene.</strong>
|
|
Biochem. Biophys. Res. Commun. 182: 99-104, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1731805/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1731805</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1731805" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/s0006-291x(05)80117-2" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="95" class="mim-anchor"></a>
|
|
<a id="Parhofer1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Parhofer, K. G., Barrett, P. H. R., Bier, D. M., Schonfeld, G.
|
|
<strong>Lipoproteins containing the truncated apolipoprotein, apoB-89, are cleared from human plasma more rapidly than apoB-100-containing lipoproteins in vivo.</strong>
|
|
J. Clin. Invest. 89: 1931-1937, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1602000/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1602000</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1602000" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1172/JCI115799" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="96" class="mim-anchor"></a>
|
|
<a id="Protter1986" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Protter, A. A., Hardman, D. A., Sato, K. Y., Schilling, J. W., Yamanaka, M., Hort, Y. J., Hjerrild, K. A., Chen, G. C., Kane, J. P.
|
|
<strong>Analysis of cDNA clones encoding the entire B-26 region of human apolipoprotein B.</strong>
|
|
Proc. Nat. Acad. Sci. 83: 5678-5682, 1986.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3461454/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3461454</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3461454" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1073/pnas.83.15.5678" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="97" class="mim-anchor"></a>
|
|
<a id="Protter1986" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Protter, A. A., Hardman, D. A., Schilling, J. W., Miller, J., Appleby, V., Chen, G. C., Kirsher, S. W., McEnroe, G., Kane, J. P.
|
|
<strong>Isolation of a cDNA clone encoding the amino-terminal region of human apolipoprotein B.</strong>
|
|
Proc. Nat. Acad. Sci. 83: 1467-1471, 1986.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3513177/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3513177</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3513177" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1073/pnas.83.5.1467" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="98" class="mim-anchor"></a>
|
|
<a id="Pulai1998" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Pulai, J. I., Neuman, R. J., Groenewegen, A. W., Wu, J., Schonfeld, G.
|
|
<strong>Genetic heterogeneity in familial hypobetalipoproteinemia: linkage and non-linkage to the apoB gene in Caucasian families.</strong>
|
|
Am. J. Med. Genet. 76: 79-86, 1998.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9508071/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9508071</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9508071" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="99" class="mim-anchor"></a>
|
|
<a id="Pullinger1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Pullinger, C. R., Hennessy, L. K., Chatterton, J. E., Liu, W., Love, J. A., Mendel, C. M., Frost, P. H., Malloy, M. J., Schumaker, V. N., Kane, J. P.
|
|
<strong>Familial ligand-defective apolipoprotein B: identification of a new mutation that decreases LDL receptor binding affinity.</strong>
|
|
J. Clin. Invest. 95: 1225-1234, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7883971/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7883971</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7883971" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1172/JCI117772" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="100" class="mim-anchor"></a>
|
|
<a id="Rajput-Williams1988" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Rajput-Williams, J., Knott, T. J., Wallis, S. C., Sweetnam, P., Yarnell, J., Cox, N., Bell, G. I., Miller, N. E., Scott, J.
|
|
<strong>Variation of apolipoprotein-B gene is associated with obesity, high blood cholesterol levels, and increased risk of coronary heart disease.</strong>
|
|
Lancet 332: 1442-1446, 1988. Note: Originally Volume II.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2904569/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2904569</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2904569" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/s0140-6736(88)90930-0" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="101" class="mim-anchor"></a>
|
|
<a id="Rapacz1986" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Rapacz, J., Hasler-Rapacz, J., Taylor, K. M., Checovich, W. J., Attie, A. D.
|
|
<strong>Lipoprotein mutations in pigs are associated with elevated plasma cholesterol and atherosclerosis.</strong>
|
|
Science 234: 1573-1577, 1986.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3787263/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3787263</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3787263" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1126/science.3787263" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="102" class="mim-anchor"></a>
|
|
<a id="Rauh1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Rauh, G., Keller, C., Schuster, H., Wolfram, G., Zollner, N.
|
|
<strong>Familial defective apolipoprotein B-100: a common cause of primary hypercholesterolemia.</strong>
|
|
Clin. Invest. 70: 77-84, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1600334/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1600334</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1600334" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/BF00422946" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="103" class="mim-anchor"></a>
|
|
<a id="Roychoudhury1988" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Roychoudhury, A. K., Nei, M.
|
|
<strong>Human Polymorphic Genes: World Distribution.</strong>
|
|
New York: Oxford Univ. Press (pub.) 1988.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="104" class="mim-anchor"></a>
|
|
<a id="Rubinsztein1993" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Rubinsztein, D. C., Raal, F. J., Seftel, H. C., Pilcher, G., Coetzee, G. A., van der Westhuyzen, D. R.
|
|
<strong>Characterization of six patients who are double heterozygotes for familial hypercholesterolemia and familial defective apo B-100.</strong>
|
|
Arterioscler. Thromb. 13: 1076-1081, 1993.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8318509/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8318509</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8318509" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1161/01.atv.13.7.1076" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="105" class="mim-anchor"></a>
|
|
<a id="Saint-Jore2000" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Saint-Jore, B., Varret, M., Dachet, C., Rabes, J.-P., Devillers, M., Erlich, D., Blanchard, P., Krempf, M., Mathe, D., Chanu, B., Jacotot, B., Farnier, M., Bonaiti-Pellie, C., Junien, C., Boileau, C.
|
|
<strong>Autosomal dominant type IIa hypercholesterolemia: evaluation of the respective contributions of LDLR and APOB gene defects as well as a third major group of defects.</strong>
|
|
Europ. J. Hum. Genet. 8: 621-630, 2000.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10952765/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10952765</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10952765" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/sj.ejhg.5200516" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="106" class="mim-anchor"></a>
|
|
<a id="Schaefer1997" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Schaefer, J. R., Scharnagl, H., Baumstark, M. W., Schweer, H., Zech, L. A., Seyberth, H., Winkler, K., Steinmetz, A., Marz, W.
|
|
<strong>Homozygous familial defective apolipoprotein B-100: enhanced removal of apolipoprotein E-containing VLDLs and decreased production of LDLs.</strong>
|
|
Arterioscler. Thromb. Vasc. Biol. 17: 348-353, 1997.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9081691/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9081691</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9081691" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1161/01.atv.17.2.348" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="107" class="mim-anchor"></a>
|
|
<a id="Schonfeld1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Schonfeld, G.
|
|
<strong>The hypobetalipoproteinemias.</strong>
|
|
Annu. Rev. Nutr. 15: 23-34, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8527219/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8527219</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8527219" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1146/annurev.nu.15.070195.000323" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="108" class="mim-anchor"></a>
|
|
<a id="Schonfeld1998" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Schonfeld, G.
|
|
<strong>Personal Communication.</strong>
|
|
St. Louis, Mo. 3/24/1998.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="109" class="mim-anchor"></a>
|
|
<a id="Shoulders1985" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Shoulders, C. C., Myant, N. B., Sidoli, A., Rodriguez, J. C., Cortese, C., Baralle, F. E., Cortese, R.
|
|
<strong>Molecular cloning of human LDL apolipoprotein B cDNA: evidence for more than one gene per haploid genome.</strong>
|
|
Atherosclerosis 58: 277-289, 1985.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3841481/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3841481</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3841481" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0021-9150(85)90073-5" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="110" class="mim-anchor"></a>
|
|
<a id="Singh2004" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Singh, M. K., Pandey, U. B., Ghoshal, U. C., Srivenu, I., Kapoor, V. K., Choudhuri, G., Mittal, B.
|
|
<strong>Apolipoprotein B-100 XbaI gene polymorphism in gallbladder cancer.</strong>
|
|
Hum. Genet. 114: 280-283, 2004.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14618390/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14618390</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14618390" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/s00439-003-1056-8" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="111" class="mim-anchor"></a>
|
|
<a id="Skalen2002" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Skalen, K., Gustafsson, M., Rydberg, E. K., Hulten, L. M., Wiklund, O., Innerarity, T. L., Boren, J.
|
|
<strong>Subendothelial retention of atherogenic lipoproteins in early atherosclerosis.</strong>
|
|
Nature 417: 750-754, 2002.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12066187/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12066187</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12066187" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/nature00804" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="112" class="mim-anchor"></a>
|
|
<a id="Soria1989" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Soria, L. F., Ludwig, E. H., Clarke, H. R. G., Vega, G. L., Grundy, S. M., McCarthy, B. J.
|
|
<strong>Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100.</strong>
|
|
Proc. Nat. Acad. Sci. 86: 587-591, 1989.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2563166/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2563166</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2563166" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1073/pnas.86.2.587" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="113" class="mim-anchor"></a>
|
|
<a id="Soutschek2004" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Soutschek, J., Akinc, A., Bramlage, B., Charisse, K., Constien, R., Donoghue, M., Elbashir, S., Geick, A., Hadwiger, P., Harborth, J., John, M., Kesavan, V., and 13 others.
|
|
<strong>Therapeutic silencing of an endogenous gene by systemic administration of modified siRNAs.</strong>
|
|
Nature 432: 173-178, 2004.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15538359/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15538359</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15538359" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/nature03121" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="114" class="mim-anchor"></a>
|
|
<a id="Steinberg1979" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Steinberg, D., Grundy, S. M., Mok, H. Y. I., Turner, J. D., Weinstein, D. B., Brown, W. V., Albers, J. J.
|
|
<strong>Metabolic studies in an unusual case of asymptomatic familial hypobetalipoproteinemia with hypoalphalipoproteinemia and fasting chylomicronemia.</strong>
|
|
J. Clin. Invest. 64: 292-301, 1979.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/221546/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">221546</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=221546" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1172/JCI109451" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="115" class="mim-anchor"></a>
|
|
<a id="Takashima1985" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Takashima, Y., Kodama, T., Iida, H., Kawamura, M., Aburatani, H., Itakura, H., Akanuma, Y., Takaku, F., Kawade, M.
|
|
<strong>Normotriglyceridemic abetalipoproteinemia in infancy: an isolated apolipoprotein B-100 deficiency.</strong>
|
|
Pediatrics 75: 541-546, 1985.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3975124/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3975124</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3975124" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="116" class="mim-anchor"></a>
|
|
<a id="Talmud1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Talmud, P. J., Converse, C., Krul, E., Huq, L., McIlwaine, G. G., Series, J. J., Boyd, P., Schonfeld, G., Dunning, A., Humphries, S.
|
|
<strong>A novel truncated apolipoprotein B (apo B55) in a patient with familial hypobetalipoproteinemia and atypical retinitis pigmentosa.</strong>
|
|
Clin. Genet. 42: 62-70, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1424233/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1424233</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1424233" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1111/j.1399-0004.1992.tb03141.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="117" class="mim-anchor"></a>
|
|
<a id="Talmud1988" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Talmud, P. J., Lloyd, J. K., Muller, D. P. R., Collins, D. R., Scott, J., Humphries, S.
|
|
<strong>Genetic evidence from two families that the apolipoprotein B gene is not involved in abetalipoproteinemia.</strong>
|
|
J. Clin. Invest. 82: 1803-1806, 1988.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2903181/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2903181</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2903181" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1172/JCI113795" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="118" class="mim-anchor"></a>
|
|
<a id="Talmud1989" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Talmud, P., King-Underwood, L., Krul, E., Schonfeld, G., Humphries, S.
|
|
<strong>The molecular basis of truncated forms of apolipoprotein B in a kindred with compound heterozygous hypobetalipoproteinemia.</strong>
|
|
J. Lipid Res. 30: 1773-1779, 1989.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2614276/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2614276</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2614276" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="119" class="mim-anchor"></a>
|
|
<a id="Tamir1976" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Tamir, I., Levtow, O., Lotan, D., Legum, C., Heldenberg, D., Werbin, B.
|
|
<strong>Further observations on familial hypobetalipoproteinemia.</strong>
|
|
Clin. Genet. 9: 149-155, 1976.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/174851/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">174851</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=174851" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1111/j.1399-0004.1976.tb01561.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="120" class="mim-anchor"></a>
|
|
<a id="Teslovich2010" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Teslovich, T. M., Musunuru, K., Smith, A. V., Edmondson, A. C., Stylianou, I. M., Koseki, M., Pirruccello, J. P., Ripatti, S., Chasman, D. I., Willer, C. J., Johansen, C. T., Fouchier, S. W., and 197 others.
|
|
<strong>Biological, clinical and population relevance of 95 loci for blood lipids.</strong>
|
|
Nature 466: 707-713, 2010.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20686565/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20686565</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20686565[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20686565" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/nature09270" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="121" class="mim-anchor"></a>
|
|
<a id="Tybjaerg-Hansen1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Tybjaerg-Hansen, A., Humphries, S. E.
|
|
<strong>Familial defective apolipoprotein B-100: a single mutation that causes hypercholesterolemia and premature coronary artery disease.</strong>
|
|
Atherosclerosis 96: 91-107, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1466657/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1466657</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1466657" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0021-9150(92)90056-m" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="122" class="mim-anchor"></a>
|
|
<a id="Tybjaerg-Hansen1998" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Tybjaerg-Hansen, A., Steffensen, R., Meinertz, H., Schnohr, P., Nordestgaard, B. G.
|
|
<strong>Association of mutations in the apolipoprotein B gene with hypercholesterolemia and the risk of ischemic heart disease.</strong>
|
|
New Eng. J. Med. 338: 1577-1584, 1998.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9603795/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9603795</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9603795" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1056/NEJM199805283382203" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="123" class="mim-anchor"></a>
|
|
<a id="Vega1986" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Vega, G. L., Grundy, S. M.
|
|
<strong>In vivo evidence for reduced binding of low density lipoproteins to receptors as a cause of primary moderate hypercholesterolemia.</strong>
|
|
J. Clin. Invest. 78: 1410-1414, 1986.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3771801/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3771801</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3771801" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1172/JCI112729" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="124" class="mim-anchor"></a>
|
|
<a id="Visvikis1990" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Visvikis, S., Chan, L., Siest, G., Drouin, P., Boerwinkle, E.
|
|
<strong>An insertion deletion polymorphism in the signal peptide of the human apolipoprotein B gene.</strong>
|
|
Hum. Genet. 84: 373-375, 1990.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2307462/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2307462</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2307462" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/BF00196239" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="125" class="mim-anchor"></a>
|
|
<a id="Weisgraber1988" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Weisgraber, K. H., Innerarity, T. L., Newhouse, Y. M., Young, S. G., Arnold, K. S., Krauss, R. M., Vega, G. L., Grundy, S. M., Mahley, R. W.
|
|
<strong>Familial defective apolipoprotein B-100: enhanced binding of monoclonal antibody MB47 to abnormal low density lipoproteins.</strong>
|
|
Proc. Nat. Acad. Sci. 85: 9758-9762, 1988.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3200853/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3200853</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3200853" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1073/pnas.85.24.9758" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="126" class="mim-anchor"></a>
|
|
<a id="Welty1991" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Welty, F. K., Hubl, S. T., Pierotti, V. R., Young, S. G.
|
|
<strong>A truncated species of apolipoprotein B (B67) in a kindred with familial hypobetalipoproteinemia.</strong>
|
|
J. Clin. Invest. 87: 1748-1754, 1991.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2022744/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2022744</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2022744" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1172/JCI115193" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="127" class="mim-anchor"></a>
|
|
<a id="Xu1989" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Xu, C., Nanjee, N., Tikkanen, M. J., Huttunen, J. K., Pietinen, P., Butler, R., Angelico, F., Del Ben, M., Mazzarella, B., Antonio, R., Miller, N. G., Humphries, S., Talmud, P. J.
|
|
<strong>Apolipoprotein B amino acid 3611 substitution from arginine to glutamine creates the Ag (h/i) epitope: the polymorphism is not associated with differences in serum cholesterol and apolipoprotein B levels.</strong>
|
|
Hum. Genet. 82: 322-326, 1989.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2472350/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2472350</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2472350" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/BF00273990" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="128" class="mim-anchor"></a>
|
|
<a id="Yang1986" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Yang, C.-Y., Chen, S.-H., Gianturco, S. H., Bradley, W. A., Sparrow, J. T., Tanimura, M., Li, W.-H., Sparrow, D. A., DeLoof, H., Rosseneu, M., Lee, F.-S., Gu, Z.-W., Gotto, A. M., Jr., Chan, L.
|
|
<strong>Sequence, structure, receptor-binding domains and internal repeats of human apolipoprotein B-100.</strong>
|
|
Nature 323: 738-742, 1986.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3095664/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3095664</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3095664" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/323738a0" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="129" class="mim-anchor"></a>
|
|
<a id="Young1986" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
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Young, S. G., Bertics, S. J., Curtiss, L. K., Casal, D. C., Witztum, J. L.
|
|
<strong>Monoclonal antibody MB19 detects genetic polymorphism in human apolipoprotein B.</strong>
|
|
Proc. Nat. Acad. Sci. 83: 1101-1105, 1986.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2419898/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2419898</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2419898" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.83.4.1101" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="130" class="mim-anchor"></a>
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<a id="Young1987" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Young, S. G., Bertics, S. J., Curtiss, L. K., Dubois, B. W., Witztum, J. L.
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|
<strong>Genetic analysis of a kindred with familial hypobetalipoproteinemia: evidence for two separate gene defects: one associated with an abnormal apolipoprotein B species, apolipoprotein B-37; and a second associated with low plasma concentrations of apolipoprotein B-100.</strong>
|
|
J. Clin. Invest. 79: 1842-1851, 1987.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3473077/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3473077</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3473077" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1172/JCI113026" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="131" class="mim-anchor"></a>
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<a id="Young1987" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Young, S. G., Bertics, S. J., Curtiss, L. K., Witztum, J. L.
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|
<strong>Characterization of an abnormal species of apolipoprotein B, apolipoprotein B-37, associated with familial hypobetalipoproteinemia.</strong>
|
|
J. Clin. Invest. 79: 1831-1841, 1987.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3584472/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3584472</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3584472" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1172/JCI113025" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="132" class="mim-anchor"></a>
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<a id="Young1986" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Young, S. G., Bertics, S. J., Scott, T. M., Dubois, B. W., Curtiss, L. K., Witztum, J. L.
|
|
<strong>Parallel expression of the MB19 genetic polymorphism in apoprotein B-100 and apoprotein B-48: evidence that both apoproteins are products of the same gene.</strong>
|
|
J. Biol. Chem. 261: 2995-2998, 1986.
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|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3949756/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3949756</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3949756" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</li>
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<li>
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<a id="133" class="mim-anchor"></a>
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<a id="Young1989" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Young, S. G., Hubl, S. T., Chappell, D. A., Smith, R. S., Claiborne, F., Snyder, S. M., Terdiman, J. F.
|
|
<strong>Familial hypobetalipoproteinemia associated with a mutant species of apolipoprotein B (B-46).</strong>
|
|
New Eng. J. Med. 320: 1604-1610, 1989.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2725600/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2725600</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2725600" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1056/NEJM198906153202407" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="134" class="mim-anchor"></a>
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<a id="Young1990" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Young, S. G., Hubl, S. T., Smith, R. S., Snyder, S. M., Terdiman, J. F.
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|
<strong>Familial hypobetalipoproteinemia caused by a mutation in the apolipoprotein B gene that results in a truncated species of apolipoprotein B (B-31): a unique mutation that helps to define the portion of the apolipoprotein B molecule required for the formation of buoyant, triglyceride-rich lipoproteins.</strong>
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|
J. Clin. Invest. 85: 933-942, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2312735/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2312735</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2312735" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1172/JCI114522" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="135" class="mim-anchor"></a>
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<a id="Young1988" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Young, S. G., Northey, S. T., McCarthy, B. J.
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<strong>Low plasma cholesterol levels caused by a short deletion in the apolipoprotein B gene.</strong>
|
|
Science 241: 591-593, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3399894/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3399894</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3399894" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1126/science.3399894" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="136" class="mim-anchor"></a>
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<a id="Yue2002" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Yue, P., Yuan, B., Gerhard, D. S., Neuman, R. J., Isley, W. L., Harris, W. S., Schonfeld, G.
|
|
<strong>Novel mutations of APOB cause ApoB truncations undetectable in plasma and familial hypobetalipoproteinemia.</strong>
|
|
Hum. Mutat. 20: 110-116, 2002. Note: Erratum: Hum. Mutat. 20: 402 only, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12124991/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12124991</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12124991" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/humu.10101" target="_blank">Full Text</a>]
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</p>
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</div>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 10/15/2013
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 10/24/2011<br>Marla J. F. O'Neill - updated : 4/21/2011<br>Ada Hamosh - updated : 9/27/2010<br>Marla J. F. O'Neill - updated : 5/7/2009<br>Ada Hamosh - updated : 4/1/2008<br>John A. Phillips, III - updated : 3/21/2008<br>Ada Hamosh - updated : 6/27/2007<br>Marla J. F. O'Neill - updated : 6/7/2007<br>John A. Phillips, III - updated : 5/11/2007<br>Cassandra L. Kniffin - updated : 1/5/2006<br>Jane Kelly - updated : 6/14/2004<br>Natalie E. Krasikov - updated : 3/2/2004<br>Victor A. McKusick - updated : 2/9/2004<br>Victor A. McKusick - updated : 8/20/2002<br>Michael B. Petersen - updated : 8/5/2002<br>Michael J. Wright - updated : 7/29/2002<br>Ada Hamosh - updated : 7/10/2002<br>Victor A. McKusick - updated : 5/10/2002<br>Victor A. McKusick - updated : 4/12/2001<br>Victor A. McKusick - updated : 3/15/2001<br>Victor A. McKusick - updated : 7/30/1998<br>Victor A. McKusick - updated : 5/18/1998<br>Victor A. McKusick - updated : 4/13/1998<br>Victor A. McKusick - updated : 10/13/1997<br>Victor A. McKusick - updated : 5/16/1997
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/16/1986
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 07/06/2022
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 07/01/2022<br>carol : 06/20/2019<br>carol : 06/19/2019<br>joanna : 08/18/2015<br>mcolton : 8/17/2015<br>joanna : 5/4/2015<br>carol : 10/9/2014<br>carol : 12/20/2013<br>mcolton : 12/20/2013<br>carol : 12/9/2013<br>carol : 12/9/2013<br>carol : 11/27/2013<br>carol : 10/15/2013<br>carol : 4/12/2013<br>terry : 7/6/2012<br>carol : 5/1/2012<br>carol : 10/24/2011<br>carol : 10/24/2011<br>terry : 10/24/2011<br>terry : 10/13/2011<br>joanna : 10/5/2011<br>terry : 6/17/2011<br>wwang : 4/21/2011<br>alopez : 9/27/2010<br>alopez : 9/27/2010<br>terry : 6/3/2009<br>wwang : 5/11/2009<br>terry : 5/7/2009<br>terry : 2/3/2009<br>terry : 1/7/2009<br>wwang : 5/21/2008<br>terry : 5/19/2008<br>carol : 4/14/2008<br>carol : 4/2/2008<br>carol : 4/1/2008<br>carol : 3/21/2008<br>alopez : 7/5/2007<br>terry : 6/27/2007<br>wwang : 6/13/2007<br>terry : 6/7/2007<br>alopez : 5/11/2007<br>wwang : 9/21/2006<br>wwang : 1/12/2006<br>ckniffin : 1/5/2006<br>terry : 5/17/2005<br>terry : 4/18/2005<br>alopez : 6/14/2004<br>carol : 3/17/2004<br>carol : 3/2/2004<br>cwells : 2/18/2004<br>terry : 2/9/2004<br>alopez : 5/16/2003<br>mgross : 10/25/2002<br>tkritzer : 8/26/2002<br>tkritzer : 8/23/2002<br>terry : 8/20/2002<br>tkritzer : 8/7/2002<br>tkritzer : 8/7/2002<br>tkritzer : 8/5/2002<br>alopez : 7/31/2002<br>terry : 7/29/2002<br>alopez : 7/11/2002<br>terry : 7/10/2002<br>ckniffin : 6/5/2002<br>alopez : 5/28/2002<br>terry : 5/10/2002<br>mcapotos : 4/24/2001<br>mcapotos : 4/18/2001<br>terry : 4/12/2001<br>carol : 3/29/2001<br>mcapotos : 3/26/2001<br>mcapotos : 3/22/2001<br>terry : 3/15/2001<br>carol : 2/13/2001<br>mgross : 5/26/2000<br>alopez : 7/31/1998<br>terry : 7/30/1998<br>terry : 5/29/1998<br>carol : 5/18/1998<br>terry : 5/18/1998<br>alopez : 5/14/1998<br>alopez : 5/4/1998<br>carol : 4/13/1998<br>terry : 3/30/1998<br>alopez : 3/23/1998<br>terry : 3/19/1998<br>terry : 10/13/1997<br>alopez : 9/5/1997<br>alopez : 7/10/1997<br>alopez : 5/19/1997<br>terry : 5/16/1997<br>terry : 2/6/1997<br>jamie : 12/6/1996<br>terry : 12/4/1996<br>mark : 11/22/1996<br>terry : 11/7/1996<br>mark : 7/22/1996<br>terry : 6/11/1996<br>terry : 6/7/1996<br>terry : 5/30/1996<br>mark : 2/2/1996<br>terry : 1/26/1996<br>mark : 10/12/1995<br>terry : 7/18/1994<br>jason : 7/5/1994<br>davew : 6/8/1994<br>warfield : 4/7/1994<br>pfoster : 3/25/1994
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</span>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 107730
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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APOLIPOPROTEIN B; APOB
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</span>
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</h3>
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</div>
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<div>
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<br />
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<div>
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<p>
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<span class="mim-font">
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Other entities represented in this entry:
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</span>
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</p>
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</div>
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<div>
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<span class="h3 mim-font">
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APOB100, INCLUDED
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</span>
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</div>
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<div>
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<span class="h4 mim-font">
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APOB48, INCLUDED<br />
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APOLIPOPROTEIN B ALLOTYPES, INCLUDED<br />
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Ag LIPOPROTEIN TYPES, INCLUDED
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</span>
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</div>
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</div>
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<div>
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<br />
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: APOB</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 238040008, 238081000, 442411007, 60193003;
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<strong>ICD10CM:</strong> E78.2, E78.6;
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</span>
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</p>
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<br />
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<div>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 2p24.1
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Genomic coordinates <span class="small">(GRCh38)</span> : 2:21,001,429-21,044,073 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="2">
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<span class="mim-font">
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2p24.1
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</span>
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</td>
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<td>
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<span class="mim-font">
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Hypercholesterolemia, familial, 2
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</span>
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</td>
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<td>
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<span class="mim-font">
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144010
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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Hypobetalipoproteinemia
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</span>
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</td>
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<td>
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<span class="mim-font">
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615558
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</tbody>
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</table>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Apolipoprotein B is the main apolipoprotein on chylomicrons and low density lipoproteins (LDLs). It occurs in the plasma in 2 main forms, apoB48 and apoB100. The first is synthesized exclusively by the intestine, the second by the liver (summary by Law et al., 1985). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Lusis et al. (1985) identified cDNA clones for rat liver apoB. Law et al. (1985) cloned human APOB. </p><p>Deeb et al. (1986) found that APOB RNA isolated from monkey small intestine contained sequences homologous to the cDNA of apolipoprotein B100. These results were interpreted as indicating that intestinal (B48) and hepatic (B100) forms of apoB are coded by a single gene. Glickman et al. (1986) found a single mRNA transcript for apoB regardless of the form of apoB (apoB100 or apoB48) synthesized in the liver or intestine. </p><p>Hospattankar et al. (1986) presented some immunologic data suggesting that the 2 proteins share a common carboxyl region sequence. Chen et al. (1986) determined the complete cDNA and amino acid sequence of apoB100. Knott et al. (1986) reported the primary structure of apolipoprotein B. The precursor has 4,563 amino acids; the mature apoB100 has 4,536 amino acid residues. This represents a very large mRNA of more than 16 kb. Law et al. (1986) also provided the complete nucleotide and derived amino acid sequence of apoB100 from a study of cDNA. Strong evidence that apoB100 and apoB48 are products of the same gene was provided by Young et al. (1986). </p><p>Cladaras et al. (1986) concluded from the sequence of apolipoprotein B100 that apoB48 may result from differential splicing of the same primary apoB mRNA transcript. </p><p>Hardman et al. (1987) found that mature, circulating B48 is homologous over its entire length (estimated to be between 2,130 and 2,144 amino acid residues) with the amino-terminal portion of B100 and contains no sequence from the carboxyl end of B100. From structural studies, Innerarity et al. (1987) concluded that apoB48 represents the amino-terminal 47% of apoB100 and that the carboxyl terminus of apoB48 is in the vicinity of residue 2151 of apoB100. Chen et al. (1987) deduced that human apolipoprotein B48 is the product of an intestinal mRNA with an in-frame UAA stop codon resulting from a C-to-U change in the codon CAA encoding Gln(2153) in apoB100 mRNA. The carboxyl-terminal ile-2152 of apoB48 purified from chylous ascites fluid has apparently been cleaved from the initial translation product, leaving met-2151 as the new carboxyl-terminus. The organ-specific introduction of a stop codon to an mRNA is an unprecedented finding. Only the sequence that codes B100 is present in genomic DNA. The change from CAA to UAA as codon 2153 of the message is a unique RNA editing process. Higuchi et al. (1988) reported similar findings. ApoB48 contains 2,152 residues compared to 4,535 residues in apoB100. Using a cloned rat cDNA as a probe, Lau et al. (1994) cloned cDNA and genomic sequences of the gene for the human APOB mRNA editing protein (BEDP; 600130). Expression of the cDNA in HepG2 cells resulted in editing of the intracellular apoB mRNA. By Northern blot analysis, they showed that the human BEDP mRNA is expressed exclusively in the small intestine. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Law et al. (1985) assigned the APOB gene to chromosome 2 by filter hybridization with DNA from human/mouse somatic cell hybrids. </p><p>By somatic cell hybrid studies and by in situ hybridization, Knott et al. (1985) assigned the APOB gene to the tip of 2p in band p24. </p><p>Deeb et al. (1986) used a hybridization probe to detect homologous sequences in both flow-sorted and in situ metaphase chromosomes. The gene was assigned to 2p24-p23. </p><p>From study of chromosomal aberrations in somatic cell hybrids, Huang et al. (1986) concluded that the APOB locus is located in either the 2p21-p23 or the 2pter-p24 segment. Mehrabian et al. (1986) localized APOB to 2p24-p23 by somatic cell hybridization and in situ hybridization. Filter hybridization studies with genomic DNA and with hepatic and intestinal mRNA suggested that hepatic and intestinal apoB are derived from the same gene. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Law et al. (1986) used a specific mouse monoclonal antibody, MB19, to characterize a common form of genetic polymorphism of APOB. They found that the polymorphism was expressed in a parallel manner in apoB100 and apoB48. </p><p>Law et al. (1986) found that 60 of 83 middle-aged white men had an XbaI restriction site polymorphism within the coding sequence of the apoB gene. Persons homozygous or heterozygous for the XbaI restriction site had mean serum triglyceride levels 36% higher than homozygotes without the site. Mean serum cholesterol was less strikingly elevated in those with the restriction site. The Ag system of lipoprotein antigens (see later) is known to represent polymorphism of the APOB locus. It is in strong linkage disequilibrium with the XbaI RFLP; the 2 probably reveal the same association with plasma lipids. Mehrabian et al. (1986) also identified 2 common RFLPs which should be useful in family studies. </p><p>Ludwig et al. (1989) described a hypervariable region 3-prime to the human APOB gene. By PCR amplification of the region followed by electrophoresis in a denaturing acrylamide gel, they found 14 different alleles containing 25 to 52 repeats of a 15-basepair unit in 318 unrelated individuals. Boerwinkle et al. (1989) also made observations on this variable-number-of-tandem-repeats (VNTR) polymorphism. Boehnke (1991) used the VNTR polymorphism near the APOB locus as a test case for his method of estimating allele frequency from data on relatives. He stated that there are 15 known APOB VNTR alleles and that 12 were observed in the families he studied. </p><p>By use of both pedigree linkage analysis and sib-pair linkage analysis in 23 informative families, Coresh et al. (1992) found no evidence of common APOB alleles that had a major influence on plasma levels of apoB100. </p><p>Singh et al. (2004) examined the association between the XbaI polymorphism of APOB100 and gallbladder diseases, including gallbladder cancer, in a non-Indian population in which both gallstones and gallbladder cancer are common. They found that the frequency of X- allele was significantly increased in gallbladder cancer patients with or without gallstones (odds ratio = 2.3 and 1.7, respectively). They suggested that the apoB-XbaI gene polymorphism confers susceptibility to carcinoma of the gallbladder under specific environmental conditions. </p><p>The base change in APOB that creates the XbaI site, 7673C-T, does not change the amino acid threonine at codon 2488 (T2488T). In a study comprising 9,185 individuals from the general population, 2,157 patients with ischemic heart disease (IHD), and 378 patients with ischemic cerebrovascular disease (ICVD), Benn et al. (2005) found that the APOB 7673C-T polymorphism is associated with moderate increases in total cholesterol, LDL cholesterol, and apoB in both genders in the general population, but not with risk of IHD or ICVD or with total mortality. </p><p>Benn et al. (2007) found that APOB K4154K homozygotes for the E4154K polymorphism had an age-adjusted hazard ratio of 0.4 (95% CI, 0.2-0.9) for ischemic cerebrovascular disease and 0.2 (CI, 0.1-0.7) for ischemic stroke relative to E4154E homozygotes. Furthermore, E4154K heterozygotes and K4154K homozygotes had lower levels of apolipoprotein B and LDL cholesterol, compared with E4154E homozygotes. APOB K4154K homozygosity predicted a 3- to 5-fold reduction in risk of ischemic cerebrovascular disease and ischemic stroke. </p><p>Demant et al. (1988) found a significant association between a particular RFLP of the APOB gene and the total fractional clearance rate of LDL. Presumably, this effect acts through variable binding to the LDLR and is a significant factor in the rate of catabolism of LDL. </p><p>Kathiresan et al. (2008) studied SNPs in 9 genes in 5,414 subjects from the cardiovascular cohort of the Malmo Diet and Cancer Study. All 9 SNPs, including rs693 of APOB, had previously been associated with elevated LDL or lower HDL. Kathiresan et al. (2008) replicated the associations with each SNP and created a genotype score on the basis of the number of unfavorable alleles. With increasing genotype scores, the level of LDL cholesterol increased, whereas the level of HDL cholesterol decreased. At 10-year follow-up, the genotype score was found to be an independent risk factor for incident cardiovascular disease (myocardial infarction, ischemic stroke, or death from coronary heart disease); the score did not improve risk discrimination but modestly improved clinical risk reclassification for individual subjects beyond standard clinical factors. </p><p>Teslovich et al. (2010) performed a genomewide association study for plasma lipids in more than 100,000 individuals of European ancestry and reported 95 significantly associated loci (P = less than 5 x 10(-8)), with 59 showing genomewide significant association with lipid traits for the first time. The newly reported associations included SNPs near known lipid regulators as well as in scores of loci not previously implicated in lipoprotein metabolism. The 95 loci contributed not only to normal variation in lipid traits but also to extreme lipid phenotypes and had an impact on lipid traits in 3 non-European populations (East Asians, South Asians, and African Americans). Teslovich et al. (2010) identified several novel loci associated with plasma lipids that are also associated with coronary artery disease. Teslovich et al. (2010) identified rs1367117 in the APOB gene as having an effect on LDL cholesterol with an effect size of +4.05 mg per deciliter and a P value of 4 x 10(-114). </p><p><strong><em>Familial Hypercholesterolemia 2, Autosomal Dominant</em></strong></p><p>
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Familial hypercholesterolemia-2 (FHCL2; 144010) is caused by mutation in APOB causing decreased LDLR (606945) binding affinity, so-called familial ligand-defective apolipoprotein B. The first mutation of this sort was described by Soria et al. (1989); see 107730.0009. A second was described by Pullinger et al. (1995); see 107730.0017. </p><p>Corsini et al. (1989) described familial hypercholesterolemia due not to a defect in the LDLR as in conventional FHCL1 (143890), but to binding-defective LDL, presumably familial defective apoB100. Rajput-Williams et al. (1988) demonstrated association of specific alleles for the apoB gene with obesity, high blood cholesterol levels, and increased risk of coronary artery disease. Several of the RFLPs used as markers do not change the amino acid sequence. The authors concluded that these RFLPs are in linkage disequilibrium with nearby functional variation predisposing to obesity or increased risk of coronary artery disease. Variations in serum cholesterol level were associated with 3 functional alleles corresponding to amino acid variants at positions 3611 and 4154, both of which lie near the LDLR binding region of apoB. Products of the APOB gene with high or low affinity for the MB-19 monoclonal antibody can be distinguished. Gavish et al. (1989) used this antibody to identify heterozygotes and detect allele-specific differences in the amount of APOB in the plasma. A family study confirmed that the unequal expression phenotype was inherited in an autosomal dominant manner and was linked to the APOB locus. </p><p>Noting that large-scale genetic cascade screening for familial hypercholesterolemia showed that 15% of LDLR or APOB mutation carriers had LDLC levels below the 75th percentile, Huijgen et al. (2010) proposed 3 criteria for determining pathogenicity of such mutations: mean LDLC greater than the 75th percentile, higher mean LDLC level in untreated than in treated carriers, and higher percentage of medication users in carriers than in noncarriers at screening. Applying these criteria to 46 mutations found in more than 50 untreated adults, 3 of the mutations were determined to be nonpathogenic: 1 in LDLR and 2 in APOB. Nonpathogenicity of the 3 variants was confirmed by segregation analysis. Huijgen et al. (2010) emphasized that novel sequence changes in LDLR and APOB should be interpreted with caution before being incorporated into a cascade screening program. </p><p><strong><em>Familial Hypobetalipoproteinemia</em></strong></p><p>
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Antonarakis (1987) and his colleagues identified a missense point mutation in the APOB gene associated with hypobetalipoproteinemia (615558). The mutation occurred at a potential site of binding of APOB to LDLR and apparently resulted in interference with the metabolism of apolipoprotein B. The finding of no recombination between the hypobetalipoproteinemia phenotype and a particular DNA haplotype of the APOB gene (Leppert et al., 1988) indicated that, at least in the family studied, hypobetalipoproteinemia was the result of a molecular defect in apolipoprotein B. </p><p>As indicated in the listing of allelic variants, a number of mutations resulting in a truncated apolipoprotein B have been found as the basis of hypobetalipoproteinemia. Other patients with this disorder have been found to have reduced concentrations of a full-length apoB100 (Young et al., 1987; Berger et al., 1983; Gavish et al., 1989). </p><p>Linton et al. (1993) tabulated 25 apoB gene mutations associated with familial hypobetalipoproteinemia. </p><p>Pulai et al. (1998) commented that various truncated forms of apoB have been found to segregate with the FHBL phenotype in more than 30 kindreds. </p><p>Schonfeld (1995, 1998) stated that in all reported kindreds in which the 'hypobeta' trait cosegregated with an apoB truncation, heterozygotes (documented by either protein or genomic DNA analysis) showed the trait. In fasting heterozygotes, there are 2 populations of apoB-containing lipoproteins: those that contain the truncation and those that contain the normal full-length apoB100. The low cholesterol levels are due to the low levels of apoB-containing lipoproteins (VLDL and particularly LDL) that transport most of the cholesterol in plasma. In turn, low levels of apoB are due to low production rates of both mutant and wildtype forms of apoB in heterozygotes. In some cases, there is also enhanced clearance from plasma. Low production of a truncated form is probably due to low levels of the truncation-specifying mRNA. It is not clear why wildtype apoB100 is produced at lower than expected rates in heterozygotes. The truncated forms of apoB are named according to a centile nomenclature. </p><p>Kairamkonda and Dalzell (2003) described 3 sibs with vitamin E deficiency and symptoms of malabsorption with documented excessive fecal fat excretion and low cholesterol, apoB, and vitamin E levels. Although the pathogenesis was not established, the authors postulated that the sibs had heterozygous FHBL due to a novel mutation of apoB because of persistent posttherapeutic low cholesterol and apoB levels. </p><p>Di Leo et al. (2007) identified 3 novel splice site mutations of the APOB gene in 4 FHBL patients and analyzed apoB mRNA in the liver of 1 proband and in transfected COS-1 cells in the other probands. The authors determined that all 3 mutations resulted in truncated apoB proteins that were not secreted as constituents of plasma lipoproteins, confirming the pathogenic effect of rare splice site mutations of the APOB gene found in FHBL. </p><p>In a 27-year-old woman from a consanguineous French Canadian family, who was diagnosed with FHBL in the first months of life, Gangloff et al. (2011) identified a homozygous truncating mutation in the APOB gene (107730.0022). The authors stated that this was the first case of homozygous FHBL in a French Canadian family. </p><p><strong><em>Apolipoprotein B Allotypes</em></strong></p><p>
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Allison and Blumberg (1961) and Blumberg and Riddell (1963) described a polymorphic system including serum beta lipoprotein distinct from that discovered by Berg and Mohr and designated Lp(a) (see 152200). They detected this by the study of patients who had received multiple transfusions. The first type was called Ag-a; the second was called Ag-b. Blumberg et al. (1964) proposed the symbol LP for lipoprotein. Lower case letters are used for designating different loci (i.e., LPa, LPb, LPc, etc.) and superscript numbers for alleles at the locus (i.e., LPa-1, LPa-2, etc.). Retention of the Ag designation may be advisable to avoid confusion with the Berg type. Jackson et al. (1974) observed a family in which variation of a chromosome 21 appeared to be linked with Ag type. The peak lod score was 2.1 at a recombination fraction of 0.0. Berg et al. (1975), on the other hand, found considerable recombination with IPO-A (147450), in family studies. IPO-A is known to be on chromosome 21 from hybrid cell studies. Berg et al. (1976) showed that serum cholesterol and triglyceride levels were higher in Ag(x-) than in Ag(x+) persons. Thus, a small but significant effect of a single autosomal locus in atherogenesis may have been demonstrated. Morganti et al. (1975) indicated that there are at least 5 closely linked loci. This serum protein polymorphism was discovered by Blumberg on the basis of his hypothesis that multitransfused patients should have antibodies against polymorphic serum proteins. The Australia antigen was found in the process of the same studies, applying the additional principle that the wider the anthropologic spread of sera tested (e.g., Australian aborigines), the greater the likelihood of finding a polymorphism. Of course, the Australia antigen proved to be not a polymorphism but a viremia--an even more important discovery, as recognized by the Nobel Prize. By this approach, Blumberg (1978) found other apparent polymorphisms that he has not yet fully studied. Allotypic variation in LDL comparable to Ag has been found in most species studied. Berg et al. (1986) demonstrated close linkage of the Ag allotypes of LDL and DNA polymorphisms at the APOB locus. Linkage disequilibrium (allelic association) was found between the Ag polymorphism and 2 of the 3 DNA polymorphisms studied. Xu et al. (1989) demonstrated that a particular Ag epitope (h/i) is determined by an arginine-to-glutamine substitution at residue 3611 of the mature protein. The amino acid difference results from a CGG-to-CAG change and causes loss of an MspI restriction site. Breguet et al. (1990) found that, with the exception of the Amerindians, the Ag system is highly polymorphic in populations worldwide. They suggested that the system has evolved as a neutral or nearly-neutral polymorphism and is therefore highly informative for 'modern human peopling history' studies. Following the cloning of the human APOB gene, nucleotide substitutions were reported as candidates for the molecular basis of all the Ag epitopes (reviewed by Dunning et al., 1992). Dunning et al. (1992) found complete linkage disequilibrium between the immunochemical polymorphism of LDL that is designated antigen group Ag(x/y) and the alleles at 2 sites in the mature apoB100 molecule: pro2712-to-leu and asn4311-to-ser. It appeared that the Ag(y) epitope was associated with asparagine-4311 plus proline-2712, whereas the allele encoding serine-4311 plus leucine-2712 represented the Ag(x) epitope. In 4 different population groups, they found complete association between the sites encoding residues 2712 and 4311, although there were large allele frequency differences between these populations. In addition, there was strong linkage disequilibrium with allelic association between the alleles of these sites and those of the XbaI RFLP in all populations examined. Taken together, these data suggest that there has been little or no recombination in the 3-prime end of the human APOB gene since the divergence of the major ethnic groups. </p><p>Data on gene frequencies of allelic variants were tabulated by Roychoudhury and Nei (1988).</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Rapacz et al. (1986) described a strain of pigs bearing 3 immunogenetically defined lipoprotein-associated markers (allotypes) associated with marked hypercholesterolemia despite a low-fat, cholesterol-free diet. LDL receptor activity was normal. By 7 months of age the animals had extensive atherosclerotic lesions in all 3 coronary arteries. One of the 3 variant apolipoproteins was apolipoprotein B. The identity of the other 2 apolipoproteins was not clear, although one was a component of low density lipoprotein and was genetically linked to the variant identified with apolipoprotein B. </p><p>Homanics et al. (1993) used gene targeting to generate a mouse model of hypobetalipoproteinemia. Mice carrying the disrupted Apob gene synthesized apoB48 and a truncated apoB (apoB70) but no apoB100. In addition to having a lipoprotein phenotype remarkably similar to familial hypobetalipoproteinemia in humans, these mice also exhibited exencephalus and hydrocephalus. Huang et al. (1995) likewise generated APOB gene knockout mice by targeting the gene in embryonic stem cells. Homozygous deficiency led to embryonic lethality, with resorption of all embryos by gestational day 9. Heterozygotes showed an increased tendency to intrauterine death with some fetuses having incomplete neural tube closure and some liveborn heterozygotes developing hydrocephalus. Most heterozygous males were sterile, although the GU system and sperm were grossly normal. Viable heterozygotes had normal triglycerides, but total LDL and HDL cholesterol levels were decreased by 37, 37, and 39%, respectively. Hepatic and intestinal APOB mRNA levels were decreased in heterozygotes. </p><p>Callow et al. (1995) noted that the engineering of mice that express a human APOB transgene results in animals with high levels of human-like LDL particles. Additionally, through crosses with transgenics for the human LPA gene, high levels of human-like lipoprotein(a) particles are seen. Callow et al. (1995) found that such mice demonstrated marked increases in apoB and LDL, resulting in atherosclerotic lesions extending down the aorta that resembled human lesions immunochemically. The findings suggested to the authors that APO(a) associated with apo(B) and lipid may result in a more pro-atherogenic state than when APO(a) is free in plasma. </p><p>Huang et al. (1996) found that male mice heterozygous for targeted mutation of the ApoB gene exhibit severely compromised fertility. Sperm from these mice fail to fertilize eggs both in vitro and in vivo. However, these sperm were able to fertilize eggs once the zona pellucida was removed but displayed persistent abnormal binding to the egg after fertilization. In vitro fertilization-related and other experiments revealed reduced sperm motility, survival time, and sperm count also contributed to the infertility phenotype. Recognition of the infertility phenotype led to the identification of ApoB mRNA in the testes and epididymides of normal mice, and these transcripts were substantially reduced in the mutant animal. Moreover, when the genomic sequence encoding human ApoB was introduced into these animals, normal fertility was restored. The findings of Huang et al. (1996) suggested that APOB may have an important impact on male fertility and identified a previously unrecognized function of ApoB. </p><p>To provide models for understanding the physiologic purpose for the 2 forms of apoB (B100 and B48), Farese et al. (1996) used targeted mutagenesis of the APOB gene to generate mice that synthesized apoB48 exclusively and mice that synthesized apoB100 exclusively. The B48-only and B100-only mice were produced by introducing into mouse ES cells stop and nonstop mutations, respectively, in the apoB48 editing codon (codon 2153) of the mouse Apob gene. Both types of mice developed normally, were healthy, and were fertile. Thus, apoB48 synthesis sufficed for normal embryonic development, and the synthesis of apoB100 in the intestine adult mice caused no readily apparent adverse effects on intestinal function or nutrition. Compared with wildtype mice fed the same diet, the levels of LDL cholesterol and VLDL and LPL triacylglycerols were lower in the B48-only mice and higher in the B100-only mice. Farese et al. (1996) stated that in the setting of apo-E deficiency, the B100-only mutation lowered cholesterol levels, consistent with the fact that B100-lipoproteins can be cleared from the plasma via the LDL receptor, whereas B48-lipoproteins lacking apo-E cannot. </p><p>Boren et al. (1998) expressed mutant forms of human apoB in transgenic mice, purified the resulting human recombinant LDL, and tested for their receptor-binding activity. They showed that amino acids 3359 to 3369 bind to the LDL receptor and that arginine-3500 is not directly involved in receptor binding. However, the C-terminal 20% of apoB100 is necessary for the R3500Q mutation to disrupt receptor binding, since removal of the C terminus in familial defective apoB100 (FDB) LDL resulted in normal receptor-binding activity. Similarly, removal of the C terminus of apoB100 on receptor-inactive VLDL dramatically increased apoB-mediated receptor-binding activity. Boren et al. (1998) proposed that the C terminus normally functions to inhibit the interaction of apoB100 VLDL with the LDL receptor, but after the conversion of triglyceride-rich VLDL to smaller cholesterol-rich LDL, arginine-3500 interacts with the C terminus, permitting normal interaction between LDL and its receptor. Moreover, the loss of arginine at this site destabilizes this interaction, resulting in receptor-binding defective LDL. </p><p>Skalen et al. (2002) created transgenic mice expressing 5 types of human recombinant LDL, fed them an atherogenic diet for 20 weeks, and quantitated the extent of atherosclerosis. They used these models to test the hypothesis that the subendothelial retention of atherogenic apoB-containing lipoproteins is the initiating event in atherogenesis. The extracellular matrix of the subendothelium, particularly proteoglycans, is thought to play a major role in the retention of atherogenic lipoproteins. The interaction between atherogenic lipoproteins and proteoglycans involves an ionic interaction between basic amino acids in apoB100 and negatively-charged sulfate groups on the proteoglycans. Skalen et al. (2002) presented direct experimental evidence that the atherogenicity of apoB-containing low-density lipoproteins is linked to their affinity for artery wall proteoglycans. Mice expressing proteoglycan-binding-defective LDL developed significantly less atherosclerosis than mice expressing wildtype control LDL. Skalen et al. (2002) concluded that subendothelial retention of apoB100-containing lipoprotein is an early step in atherogenesis. </p><p>In order to demonstrate the therapeutic potential of short interfering RNAs (siRNAs), Soutschek et al. (2004) demonstrated that chemically modified siRNAs can silence an endogenous gene encoding apoB after intravenous injection in mice. Administration of chemically modified siRNAs resulted in silencing of the apoB mRNA in liver and jejunum, decreased plasma levels of apoB protein, and reduced total cholesterol. Soutschek et al. (2004) also showed that these siRNAs could silence human apoB in a transgenic mouse model. In their in vivo study, the mechanism of action for the siRNAs was proven to occur through RNA interference (RNAi)-mediated mRNA degradation, and Soutschek et al. (2004) determined that cleavage of the apoB mRNA occurred specifically at the predicted site. </p><p>Espinosa-Heidmann et al. (2004) studied the development of basal laminar deposits in the eyes of transgenic mice that overexpressed apoB100. The mice were fed a high-fat diet, and their eyes were exposed to blue-green laser light. The results suggested that age and high-fat diet predisposed to the formation of basal laminar deposits by altering hepatic and/or retinal pigment epithelial lipid metabolism in ways more complicated than plasma hyperlipidemia alone. Vitamin E-treated mice showed minimal formation of basal laminar deposits. </p><p>In the eyes of transgenic mice overexpressing human apoB100 in the RPE, Fujihara et al. (2009) observed ultrastructural changes consistent with early human age-related macular degeneration (ARMD) (see 603075), including loss of basal infoldings and accumulation of cytoplasmic vacuoles in the RPE and basal laminar deposits containing long-spacing collagen and heterogeneous debris in Bruch membrane. In apoB100 mice given a high-fat diet, basal linear-like deposits were identified in 12-month-old mice. Linear regression analysis showed that the genotype was a stronger influencing factor than high-fat diet in producing ARMD-like lesions. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>22 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 HYPOBETALIPOPROTEINEMIA, FAMILIAL</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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APOB, 4-BP DEL, NT5391
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<br />
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SNP: rs281865425,
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ClinVar: RCV000019470, RCV001837436
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a patient with hypobetalipoproteinemia (615558) and small amounts of a truncated apoB protein (B37) in VLDL, LDL, and HDL fractions of the plasma, Young et al. (1987, 1988) found deletion of 4 nucleotides (5391_5394del4) resulting in a frameshift causing change of asn1728 to thr (N1728T) and ser1729 to stop (S1729X). The truncated apoB protein contained 1,728 amino acids. This was one of the mutant alleles in the family with hypobetalipoproteinemia first reported by Steinberg et al. (1979). Linton et al. (1992) investigated the reason for the curious finding that low levels of apoB100 were produced by the mutant allele carrying this mutation. The clue that led to the understanding of what was going on with this allele was the recognition that the proband in the family, H.J.B., as well as the other 2 compound heterozygotes, actually had 4 bona fide apoB species within their plasma lipoproteins: apoB37, apoB48, apoB100, and apoB86. Linton et al. (1992) demonstrated that the apoB86 and apoB100 were products of a single mutant apoB allele, which they designated the apoB86 allele. They showed that this allele has a 1-bp deletion in exon 26 of the APOB gene (107730.0016) and that this frameshift is responsible for the synthesis of apoB86. Nevertheless, as shown by cell culture expression studies, the apoB86 allele, which contains a premature stop codon, results in the synthesis of a full-length apoB protein. The 1-bp deletion creates a stretch of 8 consecutive adenines. Addition of a single adenine within the 8 consecutive adenines appears to take place during transcription, restoring the correct reading frame and accounting for the formation of apoB100 by the apoB86 allele. Eleven percent of the cDNA clones had an additional adenine within the stretch of 8 adenines. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 HYPOBETALIPOPROTEINEMIA, FAMILIAL, ASSOCIATED WITH APOB39</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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APOB, 1-BP DEL, FS1799TER
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<br />
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SNP: rs397514255,
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gnomAD: rs397514255,
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ClinVar: RCV000019471
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>Collins et al. (1988) described a truncated apoB protein due to deletion of a single guanine nucleotide from leucine codon 1794, resulting in a frameshift and a stop codon after codon 1799, as a cause of familial hypobetalipoproteinemia (615558). The truncated protein was referred to as apoB39. The mutation occurred in a CpG dinucleotide. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 HYPOBETALIPOPROTEINEMIA, FAMILIAL</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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APOB, ARG1306TER
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<br />
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SNP: rs121918383,
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gnomAD: rs121918383,
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ClinVar: RCV000019472, RCV001851946, RCV003225024
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>A second truncated variant of apoB found in familial hypobetalipoproteinemia (615558) by Collins et al. (1988) had a change of arginine codon 1306, converting it to a stop codon and resulting in a protein of 1,305 residues which, however, could not be detected in the circulation. This mutation was a C-to-T transition in a CpG dinucleotide. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0004 HYPOBETALIPOPROTEINEMIA, FAMILIAL, ASSOCIATED WITH APOB40</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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APOB, VAL1829CYS
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<br />
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SNP: rs121918384,
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gnomAD: rs121918384,
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ClinVar: RCV000019473, RCV002513122
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>Krul et al. (1989) found 2 distinct truncated apoB proteins, apoB40 and apoB90, in a kindred with hypobetalipoproteinemia (615558). Talmud et al. (1989) showed that the molecular basis was deletion of 2 nucleotides converting val1829 to cys and codon 1830 to stop. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0005 HYPOBETALIPOPROTEINEMIA, FAMILIAL, ASSOCIATED WITH APOB90 OR APOB89</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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APOB, GLU4034ARG
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<br />
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SNP: rs121918385,
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ClinVar: RCV000019474
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>See Krul et al. (1989). The molecular basis of familial hypobetalipoproteinemia (615558) was deletion of 1 nucleotide in glutamic acid codon 4034 converting that codon to arginine and causing a frameshift with a stop codon at position 4040 (Talmud et al., 1989). Parhofer et al. (1992) showed that enhanced catabolism of VLDL, IDL, and LDL particles containing the truncated apolipoprotein is responsible for the relatively low levels of apoB89 seen in these subjects. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0006 HYPOBETALIPOPROTEINEMIA, FAMILIAL, ASSOCIATED WITH APOB46</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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APOB, ARG2058TER
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<br />
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SNP: rs121918386,
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gnomAD: rs121918386,
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ClinVar: RCV000019476, RCV001093352, RCV001181782, RCV001851947
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</span>
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>Young et al. (1989) characterized an apoB gene mutation in a kindred with familial hypobetalipoproteinemia (615558). Six members of the family had low plasma apoB and LDL cholesterol levels, and each was shown to be heterozygous for a mutant apoB allele that yielded a unique truncated species of apoB, namely apoB46, with only 2,037 amino acids. They further showed that apoB46 is caused by the substitution of T for C at apoB cDNA nucleotide 6381, resulting in a nonsense mutation. The change occurred in a CG dinucleotide. A C-to-T transition in the APOB gene was responsible for hypobetalipoproteinemia in one of the families studied by Collins et al. (1988). Like CETP deficiency (143470), this appears to be an antiatherogenic mutation. </p>
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|
</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 HYPOBETALIPOPROTEINEMIA, FAMILIAL, ASSOCIATED WITH APOB87</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
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APOB, 1-BP DEL, 12032G
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|
<br />
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|
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SNP: rs387906569,
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|
|
gnomAD: rs387906569,
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|
|
|
|
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ClinVar: RCV000019477
|
|
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|
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</span>
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a family segregating hypobetalipoproteinemia (615558), Gabelli et al. (1996) identified 2 sibs who were homozygous for a 1-bp deletion in the APOB gene (12032delG), causing a frameshift and termination at amino acid 3978. The truncated apoB form was designated apoB-87-Padova. Although the 2 homozygous members had only trace amounts of low density lipoprotein, they were virtually free from symptoms typical of homozygous FHBL subjects. Seven members of the family who were heterozygous for the mutation were asymptomatic, with LDL cholesterol concentrations corresponding to about 50% of normal values. </p>
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|
</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 HYPOBETALIPOPROTEINEMIA, FAMILIAL, ASSOCIATED WITH APOB31</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
APOB, 1-BP DEL, 1425G
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|
|
|
|
|
<br />
|
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|
|
SNP: rs397514256,
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|
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|
|
|
gnomAD: rs397514256,
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|
|
|
|
|
ClinVar: RCV000019478
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|
|
|
|
|
</span>
|
|
</div>
|
|
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|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Young et al. (1990) identified a mutation of the APOB gene that resulted in formation of a truncated apoB species, apoB31, as a cause of familial hypobetalipoproteinemia. The mutation consisted of deletion of a single guanine residue which caused a frameshift and a premature termination with formation of a protein predicted to contain 1,425 amino acids. This is the shortest of the mutant apoB species identified in the plasma of subjects with hypobetalipoproteinemia. In contrast to the longer truncated proteins, apoB31 was undetectable in VLDL and LDL but was present in the HDL fraction and in the lipoprotein-deficient fraction of the plasma. This mutation was found in the course of studying the apoB46 mutant (Young et al., 1989). </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0009 HYPERCHOLESTEROLEMIA, FAMILIAL, 2</strong>
|
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</span>
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</h4>
|
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</div>
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<div>
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<span class="mim-text-font">
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APOB, ARG3500GLN
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<br />
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SNP: rs5742904,
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gnomAD: rs5742904,
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|
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ClinVar: RCV000019479, RCV000254882, RCV000412515, RCV000499833, RCV000771116, RCV000844612, RCV000851289, RCV001837437, RCV002399330, RCV004528126, RCV004584331
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>By extensive sequence analysis of the 2 alleles of the APOB gene in a man with moderate hypercholesterolemia (FHCL2; 144010), who was originally reported by Vega and Grundy (1986) and was found to be heterozygous for familial defective apolipoprotein by Innerarity et al. (1987), Soria et al. (1989) demonstrated a mutation in the codon for amino acid 3500 that results in the substitution of glutamine for arginine. This same mutant allele was found in 6 other, unrelated subjects and in 8 affected relatives in 2 of these families. A partial haplotype of this mutant apoB100 allele was constructed by sequence analysis and restriction enzyme digestion at positions where variations in the apoB100 are known to occur. This haplotype was found to be the same in 3 probands and 4 affected members of 1 family and lacks a polymorphic XbaI site whose presence has been correlated with high cholesterol levels. Thus, it appears that the mutation in the codon for amino acid 3500 (CGG-to-CAG), a CG mutation hotspot, defines a minor apoB100 allele associated with defective low density lipoproteins and hypercholesterolemia. </p><p>Ludwig and McCarthy (1990) used 10 markers for haplotyping at the APOB locus in cases of familial defective apolipoprotein B100: 8 diallelic markers within the structural gene and 2 hypervariable markers flanking the gene. In 14 unrelated subjects heterozygous for the mutation, 7 of 8 unequivocally deduced haplotypes were identical, and 1 revealed only a minor difference at one of the hypervariable loci. The genotypes of the other 6 affected subjects was consistent with the same haplotype. Familial defective apolipoprotein B100 (FDB) results from a G-to-A transition at nucleotide 10708 in exon 26 of the APOB gene. Ludwig and McCarthy (1990) interpreted the data as consistent with the existence of a common ancestral chromosome. </p><p>In a screening for the APOB3500 mutation by PCR amplification and hybridization with an allele-specific oligonucleotide, Loux et al. (1993) found only 1 case among 101 French subjects with familial hypercholesterolemia. The son of this individual, a 45-year-old man, was found also to have the mutation. Haplotype analysis revealed strict identity to that previously reported by Ludwig and McCarthy (1990), thus supporting a unique European ancestry. The family lived in the southwest of France and had no knowledge of Germanic origin. </p><p>Rauh et al. (1992) stated that the frequency of the arg3500-to-gln mutation has been found to be approximately 1/500 to 1/700 in several Caucasian populations in North America and Europe. On the other hand, Friedlander et al. (1993) found no instance of this mutation in a large screening program in Israel. They pointed out that the mutation has also not been found in Finland (Hamalainen et al., 1990) and is said to be absent in Japan. Tybjaerg-Hansen and Humphries (1992) gave a review suggesting that the risk of premature coronary artery disease in the carriers of the mutation is increased to levels as high as those seen in patients with familial hypercholesterolemia; at age 50, about 40% of males and 20% of females heterozygous for the mutation have developed coronary artery disease. </p><p>Marz et al. (1992) found only moderate hypercholesterolemia in a 54-year-old man who was homozygous for the arg3500-to-gln mutation and on a normal diet without lipid-lowering medication. There was no evidence of atherosclerosis and no history of cardiovascular complaints. The levels of apoE-containing lipoproteins were normal. Marz et al. (1992) suggested that the intact metabolism of apoE-containing particles decreases LDL production in this disorder, explaining the difference from familial hypercholesterolemia due to a receptor defect in which apoE levels are raised. Marz et al. (1993) investigated possible compensatory mechanisms that may have alleviated the consequences of the familial defective apoB100 (FDB). They showed that the receptor interaction of buoyant LDL is normal due to the presence of apoE in these particles. In addition, they provided evidence that the arg3500-to-gln substitution profoundly alters the conformation of the apoB receptor binding domain when apolipoprotein B resides on particles at the lower and upper limits of the LDL density range. They concluded that these mechanisms distinguish FDB from FH and account for the mild hypercholesterolemia in homozygous FDB. Among 43 patients with clinically and biochemically defined type III hyperlipoproteinemia (107741), Feussner and Schuster (1992) found no instance of the arg3500-to-gln mutation. </p><p>In the course of investigating 2 unrelated French patients heterozygous for mutations in the LDLR gene (606945) who had aggravated hypercholesterolemia, Benlian et al. (1996) found that each carried the identical arg3500-to-gln mutation in the APOB gene, i.e., were double heterozygotes. One of the patients was a 10-year-old boy when he was referred for hypercholesterolemia discovered at the time of a cardiac arrest. He had no planar xanthomata, although he exhibited bilateral xanthomas of the Achilles and metacarpal phalangeal tendons. Peripheral arterial disease was demonstrated by the presence of arterial murmurs and by arterial wall irregularity on ultrasound analysis. Stenoses of coronary arteries necessitated surgical angioplasty. The second patient was a 39-year-old man with myocardial infarction and acute ischemia of the legs. Both families came from the Perche region from which many French Canadians originated. The LDLR mutations trp66-to-gly (606945.0003) and glu207-to-lys (606945.0007) had previously been described in French Canadians. Rubinsztein et al. (1993) described an Afrikaner family with 6 FH/FDB double heterozygotes carrying another LDLR mutation, asp206-to-glu (606945.0006). (Benlian et al. (1996), in the title of their article, correctly referred to these patients as double heterozygotes; in the paper itself they incorrectly referred to them as FH/FDB compound heterozygotes. The latter term is used for heterozygosity for alleles at the same locus.) </p><p>In a patient homozygous for the R3500Q mutation, Schaefer et al. (1997) found LDL cholesterol and apoB concentrations approximately twice normal, whereas apoE plasma level was low. Using a stable-isotope labeling technique, they obtained data showing that the in vivo metabolism of apoB100-containing lipoproteins in FDB is different from that in familial hypercholesterolemia, in which LDL receptors are defective. Although the residence times of LDL apoB100 appeared to be increased to approximately the same degree, LDL apoB100 synthetic rate was increased in FH and decreased in FDB. The decreased production of LDL apoB100 in FDB may originate from enhanced removal of apoE-containing LDL precursors by LDL receptors, which may be upregulated in response to the decreased flux of LDL-derived cholesterol into hepatocytes. </p><p>Almost all individuals with familial defective apoB100 are of European descent, and in almost all cases the mutation is on a chromosome with a rare haplotype at the apoB locus, suggesting that all probands are descended from a common ancestor in whom the original mutation occurred. Distribution of the mutation is consistent with an origin in Europe 6,000 to 7,000 years ago. Myant et al. (1997) estimated the amount of recombination between the APOB gene and markers on chromosome 2 in 34 FDB (R3500Q) probands in whom the mutation is on the usual 194 haplotype. Significant linkage disequilibrium was found between the APOB gene and marker D2S220. They identified 3 YACs that contained the APOB gene and D2S220. The shortest restriction fragment common to the 3 YACs that contain both loci was 240 kb long. No shorter fragments with both loci were identified. On the assumption that 1000 kb corresponds to 1 cM, Myant et al. (1997) deduced that the recombination distance between D2S220 and the APOB gene is about 0.24 cM. Combining this value with the linkage disequilibrium observed between the 2 loci in the probands, they estimated that the ancestral mutation occurred about 270 generations ago. They postulated that the original mutation occurred in the common ancestor of living FDB (R3500Q) probands, who lived in Europe about 6,750 years ago. </p><p>Tybjaerg-Hansen et al. (1998) found that the R3500Q mutation in the APOB gene is present in approximately 1 in 1,000 persons in Denmark and causes severe hypercholesterolemia and increases the risk of ischemic heart disease. Heterozygous carriers of the arg3531-to-cys (107730.0017) mutation, which is present in the population in approximately the same frequency and also is associated with familial defective apolipoprotein B100, was not associated with higher-than-normal plasma cholesterol levels or an increased risk of ischemic heart disease. </p><p>Saint-Jore et al. (2000) estimated the respective contributions of the LDLR gene defect, APOB gene defect, and other gene defects in autosomal dominant type IIa hypercholesterolemia by studying 33 well-characterized French families in which this disorder had been diagnosed over at least 3 generations. Using the candidate gene approach, they found that defects in the LDLR gene accounted for the disorder in about 50% of the families. The estimated contribution of an APOB gene defect was only 15%. This low estimation of involvement of the APOB gene defect was strengthened by the existence of only 2 probands carrying the R3500Q mutation. Surprisingly, 35% of the families were estimated to be linked to neither LDLR nor APOB. The results suggested that genetic heterogeneity in type IIa hypercholesterolemia had been underestimated and that at least 3 major groups of defects were involved. The authors were unable to estimate the contribution of the FH3 gene (603776). </p><p>Boren et al. (2001) concluded that normal receptor binding of LDL involves an interaction between arginine-3500 and tryptophan-4369 in the carboxyl tail of apoB100. Trp4369 to tyr (W4369Y) LDL and arg3500 to gln (R3500Q) LDL isolated from transgenic mice had identically defective LDL binding and a higher affinity for a monoclonal antibody that has an epitope flanking residue 3500. Boren et al. (2001) concluded that arginine-3500 interacts with tryptophan-4369 and facilitates the conformation of apoB100 required for normal receptor binding of LDL. They developed a model that explained how the carboxyl terminus of apoB100 interacts with the backbone of apoB100 that enwraps the LDL particle. The model explained how all known ligand-defective mutations in apoB100, including a newly discovered R3480W mutation, cause defective receptor binding. </p><p>Horvath et al. (2001) studied 130 unrelated individuals with hypercholesterolemia in Bulgaria. Four of these individuals were found to be carriers of this mutation. Horvath et al. (2001) concluded that this mutation accounts for 0.99 to 8.17% (95% CI) of cases of hypercholesterolemia in Bulgaria and therefore represents the most common single mutation associated with this condition in Bulgaria. </p><p>Bednarska-Makaruk et al. (2001) found the arg3500-to-gln mutation in 2.5% (13/525) of unrelated patients with hypercholesterolemia in Poland. All the patients belonged to the type IIA hyperlipoproteinemia group. In 65 patients with the clinical characteristics of familial hypercholesterolemia, the frequency of the arg3500-to-gln mutation was 10.8% (7/65). The same haplotype at the APOB locus in the carriers of this mutation in Poland as in other populations from western Europe suggested its common origin. </p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0010 HYPOBETALIPOPROTEINEMIA, FAMILIAL</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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APOB, EX21DEL
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<br />
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ClinVar: RCV000019475
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In an Arab patient with hypobetalipoproteinemia and absent plasma apolipoprotein B (615558), Huang et al. (1989) demonstrated deletion of the entire exon 21 (211 basepairs coding for amino acids 1014 to 1084). </p>
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</span>
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</div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0011 APOB POLYMORPHISM IN SIGNAL PEPTIDE</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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APOB, INS AND DEL
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<br />
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ClinVar: RCV000251913, RCV000256231, RCV000845489, RCV001837802, RCV002287892, RCV002450767, RCV003389246
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>Visvikis et al. (1990) described an insertion/deletion polymorphism in the signal peptide. One allele, coding a peptide 27 amino acids long, had a frequency of 0.655; the second allele, coding a peptide 24 amino acids long, had a frequency of 0.345. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0012 HYPOBETALIPOPROTEINEMIA, FAMILIAL</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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APOB, LEU3041TER
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<br />
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SNP: rs121918387,
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ClinVar: RCV000019481, RCV002496419, RCV005003395
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a man and 6 of his children with hypobetalipoproteinemia (615558), Welty et al. (1991) found that the plasma lipoproteins contained a unique species of apolipoprotein B, apoB67, in addition to the normal species, apoB100 and apoB48. Further study indicated that the apoB67 was a truncated species that contained approximately the amino-terminal 3,000 to 3,100 amino acids of apoB100. Heterozygosity was identified for a mutant APOB allele containing a single nucleotide deletion in exon 26 (cDNA nucleotide 9327). The change in codon 3041 from ATA (leu) to TAG (stop) led to truncation after amino acid 3040. Mean total and LDL cholesterol levels were 120 and 42 mg/dl, respectively. All affected members of the kindred had high HDL cholesterol levels. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0013 HYPOBETALIPOPROTEINEMIA, NORMOTRIGLYCERIDEMIC</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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APOB, GLN2252TER
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<br />
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SNP: rs121918388,
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gnomAD: rs121918388,
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ClinVar: RCV001837438
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>Malloy et al. (1981) described a patient (A.F.) with a metabolic disorder that they termed normotriglyceridemic abetalipoproteinemia (615558). Similar cases were reported by Takashima et al. (1985), Herbert et al. (1985), and Harano et al. (1989). The disorder was characterized by the absence of LDLs and apoB100 in plasma with apparently normal secretion of triglyceride-rich lipoproteins containing apoB48. Subsequent studies in A.F. suggested that the patient's plasma might be a truncated form of apoB100, slightly longer than the normal apoB48 chain. Hardman et al. (1991) demonstrated that the patient was homozygous for a single C-to-T substitution at nucleotide 6963 of apoB cDNA. This substitution resulted in a change from CAG (glutamine) to TAG (stop) at position 2252. Thus, this was a rare example of homozygous hypobetalipoproteinemia. Because LDL particles that contained apoB50 lacked the putative ligand domain of the LDL receptor, the very low level of LDL was presumably due to the rapid removal of the abnormal VLDL particles before their conversion to LDL could take place. As reviewed by Hardman et al. (1991), a considerable number of mutations resulting in truncated versions of apoB have been described, the smallest variant being apoB31, and the longest, apoB90. Using 3 genetic markers of the APOB gene in a study of the family reported by Takashima et al. (1985), Naganawa et al. (1992) found that the proband and her affected brother showed completely different APOB alleles, indicating that in this family the defect was not in the APOB gene. </p><p>Homer et al. (2005) suggested that the term 'normotriglyceridemic hypobetalipoproteinemia' is preferred to 'normotriglyceridemic abetalipoproteinemia' because abetalipoproteinemia (ABL; 200100) refers to the disorder caused by mutation in the MTP gene (157147). </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0014 HYPOBETALIPOPROTEINEMIA, FAMILIAL, ASSOCIATED WITH APOB32</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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APOB, GLN1450TER
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<br />
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SNP: rs121918389,
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gnomAD: rs121918389,
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ClinVar: RCV000019483
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a person with heterozygous hypobetalipoproteinemia (615558), McCormick et al. (1992) identified a nonsense mutation, gln1450-to-ter (Q1450X), that prevented full-length translation. The new apolipoprotein B, apoB32, is predicted to contain the 1,449 N-terminal amino acids of apoB100. It was associated with a markedly decreased level of low density lipoprotein (LDL cholesterol). Unique among the truncated apoB species, apoB32 was found in the high density lipoprotein and lipoprotein-depleted fractions, suggesting that it was mainly assembled into abnormally dense lipoprotein particles. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0015 HYPOBETALIPOPROTEINEMIA, FAMILIAL</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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APOB, ARG2495TER
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<br />
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SNP: rs121918390,
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gnomAD: rs121918390,
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ClinVar: RCV000019484, RCV001027451, RCV001837439
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a patient with familial hypobetalipoproteinemia (615558), Talmud et al. (1992) identified a C-to-T transition at nucleotide 7692 of the APOB gene which changed the CGA arginine codon to a stop codon resulting in a premature termination of apoB100. The truncated protein was predicted to be 2,494 amino acids long with the predicted size of apoB55. The patient had low total cholesterol and LDL-cholesterol as did also other relatives in an autosomal dominant pattern. In addition, the propositus, his mother, and both of his sibs had atypical retinitis pigmentosa. Since the RP-affected brother did not have the APOB mutation, Talmud et al. (1992) concluded that the eye disease was independent of the hypobetalipoproteinemia. They speculated, however, that a reduction in apoB-containing lipoproteins might alter the balance of the fatty acid supply to the retina and thus affect the evolution of retinitis pigmentosa in this family. The retinitis pigmentosa was late in onset. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0016 HYPOBETALIPOPROTEINEMIA, FAMILIAL</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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APOB, 1-BP DEL, NT11840
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<br />
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SNP: rs587776852,
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gnomAD: rs587776852,
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ClinVar: RCV000019485, RCV001851948
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In H.J.B. and 2 sibs with asymptomatic familial hypobetalipoproteinemia (615558) reported by Steinberg et al. (1979), Linton et al. (1992) demonstrated that one of the alleles, which yielded very low levels of apoB100, had a deletion of a single cytosine in exon 26 (nucleotide 11840 of the apoB cDNA). This frameshift mutation was predicted to yield a 20-amino acid sequence (KKQIMLKQSWIPHAAQPYSS) not found in the wildtype, followed by a premature stop codon. Indeed, they found an antiserum to a synthetic peptide containing this 20-amino acid sequence (frameshift peptide 3877-3896) bound specifically to apoB86 but not to apoB100. Thus the compound heterozygotes had 2 mutant apoB alleles, one primarily responsible for apoB37 (107730.0001) and the other responsible for apoB86, both of which contained frameshift mutations in exon 26. Linton et al. (1992) further demonstrated that the 1-bp deletion in the apoB86 allele created a stretch of 8 consecutive adenines. Addition of a single adenine within the 8 consecutive adenines would be predicted to correct the altered reading frame, thereby resulting in the production of a full-length protein. They presented evidence that a significant percentage (about 11%) of the apoB cDNA clones from rat hepatoma cells transformed with an apoB construct containing the 1-bp deletion indeed had 9 consecutive adenines. It appeared that the addition of an extra adenine during transcription restored the correct reading frame and accounted for the formation of some apoB100 from the apoB86 allele. Other experiments were thought to exclude an alternative explanation, the activation of a cryptic splice site within exon 26 upstream from the deletion. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0017 HYPERCHOLESTEROLEMIA, FAMILIAL, 2</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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APOB, ARG3531CYS
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<br />
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SNP: rs12713559,
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gnomAD: rs12713559,
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ClinVar: RCV000019486, RCV000219069, RCV000412657, RCV000587550, RCV001837440, RCV002408470
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>Suspecting that mutations in the APOB gene other than the arg3500-to-gln mutation (107730.0009) may cause familial hypercholesterolemia (FHCL2; 144010), Pullinger et al. (1995) used single-strand conformation polymorphism analysis to screen genomic DNA from patients attending a lipid clinic and looked for mutations in the putative LDL receptor-binding domain of apoB100. They found a novel arg3531-to-cys mutation, caused by a C-to-T transition at nucleotide 10800, in a 46-year-old woman of Celtic and Native American ancestry with primary hypercholesterolemia and pronounced peripheral vascular disease. After screening 1,560 individuals, one unrelated 59-year-old man of Italian ancestry was found to have the same mutation. He had coronary heart disease, a triglyceride cholesterol of 310 mg/dl, and an LDL cholesterol of 212 mg/dl. A total of 8 individuals were found with the same defect in the families of these 2 patients. The age- and sex-adjusted TC and LDL-C were 240 and 169, respectively, for the 8 affected individuals, as compared with 185 and 124, respectively, for 8 unaffected family members. In a dual-labeled fibroblast binding assay, LDL from the 8 subjects with the mutation had an affinity for the LDL receptor that was 63% of that of control LDL. LDL from 8 unaffected family members had an affinity of 91%. By way of comparison, LDL from 6 patients heterozygous for the arg3500-to-gln mutation had an affinity of 36%. Deduced haplotypes using 10 APOB gene markers showed the arg3531-to-cys alleles to be different in the 2 kindreds and indicated that the mutations arose independently. This was the second reported cause of familial ligand-defective apoB. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0018 HYPOBETALIPOPROTEINEMIA, FAMILIAL</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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APOB, IVS7AS, A-G, -2
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<br />
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SNP: rs1572800245,
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ClinVar: RCV000019487, RCV001851949
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>Hegele and Miskie (2002) described acanthocytosis in a 31-year-old woman with homozygous familial hypobetalipoproteinemia (615558) due to a splicing mutation in the APOB gene, IVS7-2A-G. Treatment with fat-soluble vitamins was associated with arrest of the usually progressive neurologic complications of this condition. However, acanthocytosis persisted. The diagnosis of hypobetalipoproteinemia was made at the age of 11 years on the basis of acanthocytosis and the absence of apoB-containing lipoproteins. The consanguineous parents were heterozygotes. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0019 HYPOBETALIPOPROTEINEMIA, FAMILIAL</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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APOB, 1-BP DEL, 4432T
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<br />
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ClinVar: RCV000019488
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a family segregating familial hypobetalipoproteinemia (615558), Yue et al. (2002) described a 1-bp deletion, 4432delT, in exon 26 of the APOB gene, producing a frameshift and a premature stop codon and resulting in a truncated apoB-30.9. Although this truncation was only 10 amino acids shorter than the well-documented apoB31 (107730.0008), which is readily detectable in plasma, apoB-30.9 was undetectable. Most truncations shorter than apoB-30 are not detectable in plasma. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0020 HYPOBETALIPOPROTEINEMIA, NORMOTRIGLYCERIDEMIC</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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APOB, 4-BP DEL, NT36491
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<br />
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ClinVar: RCV001837441
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a patient with normotriglyceridemic hypobetalipoproteinemia (615558), obesity, and mental retardation, Homer et al. (2005) identified compound heterozygosity for 2 mutations in the APOB gene. One was a 4-bp deletion beginning at nucleotide 36491 in exon 26, predicted to result in a frameshift and incorporation of 5 new amino acids before encountering a premature termination codon at position 3053. This translated protein would be 66% of full-length apoB, which would allow for expression in the liver and for production of minute amounts of VLDL and LDL. Accordingly, the patient did not have failure to thrive or steatorrhea. The second mutation was a 29142T-A transversion in exon 23, resulting in a tyr1173-to-ter (Y1173X; 107730.0021) substitution. The translated Y1173X protein is predicted to be 25.8% of apoB100 and is not expressed in apoB-containing lipoproteins. Homer et al. (2005) suggested that the clinical features of ataxia, visual impairment, and probable neuropathy seen in the patient resulted from the inability to transport the active stereoisomer of vitamin E from the liver. These clinical features were similar to those seen in isolated vitamin E deficiency (VED; 277460). Homer et al. (2005) noted that the clinical features of this patient were similar to those of the patient reported by Malloy et al. (1981) (see 107730.0013). </p><p>Homer et al. (2005) suggested that the term 'normotriglyceridemic hypobetalipoproteinemia' is preferred to 'normotriglyceridemic abetalipoproteinemia' because abetalipoproteinemia (ABL; 200100) refers to the disorder caused by mutation in the MTP gene (157147). </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0021 HYPOBETALIPOPROTEINEMIA, NORMOTRIGLYCERIDEMIC</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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APOB, TYR1173TER
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<br />
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SNP: rs121918391,
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ClinVar: RCV001837442, RCV001851950
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>For discussion of the tyr1173-to-ter (Y1173X) mutation in the APOB gene that was found in compound heterozygous state in a patient with normotriglyceridemic hypobetalipoproteinemia (615558) by Homer et al. (2005), see 107730.0020. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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|
<strong>.0022 HYPOBETALIPOPROTEINEMIA, FAMILIAL</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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APOB, 2-BP INS, 825GG
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<br />
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SNP: rs606231236,
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ClinVar: RCV000032601
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a 27-year-old woman from a consanguineous French Canadian family, who was diagnosed with familial hypobetalipoproteinemia (FHBL; 615558) in the first months of life, Gangloff et al. (2011) identified a 2-bp insertion (825insGG) in exon 9 of the APOB gene, causing a frameshift predicted to result in a truncated protein that is approximately 7% of the normal APOB length. The proband and 2 younger brothers, aged 12 and 4 years, had undetectable apoB levels, extremely low levels of cholesterol in all lipoprotein fractions, low levels of lipophilic vitamins, and acanthocytosis. Vitamin E deficiency was present in all 3. The obligate-heterozygote parents had plasma levels of apoB-containing lipoproteins that were approximately 50% of normal, suggesting a codominant pattern of inheritance. The parents declined genetic testing for themselves and their younger children. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>See Also:</strong>
|
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</span>
|
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</h4>
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|
<span class="mim-text-font">
|
|
Aggerbeck et al. (1974); Allison and Blumberg (1965); Barni et al.
|
|
(1986); Butler et al. (1970); Butler and Brunner (1969); Carlsson et
|
|
al. (1985); Chan et al. (1985); Cottrill et al. (1974); Frossard et
|
|
al. (1986); Hegele et al. (1986); Illingworth et al. (1992);
|
|
Innerarity et al. (1987); Knott et al. (1986); Law et al. (1986);
|
|
Morganti et al. (1970); Protter et al. (1986); Protter et al. (1986);
|
|
Shoulders et al. (1985); Talmud et al. (1988); Tamir et al. (1976);
|
|
Weisgraber et al. (1988); Yang et al. (1986); Young et al. (1987);
|
|
Young et al. (1986)
|
|
</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
|
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</div>
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<div>
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<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Aggerbeck, L. P., McMahon, J. P., Scanu, A. M.
|
|
<strong>Hypobetalipoproteinemia: clinical and biochemical description of a new kindred with Friedreich's ataxia.</strong>
|
|
Neurology 24: 1051-1063, 1974.
|
|
|
|
|
|
[PubMed: 4472544]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1212/wnl.24.11.1051]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Allison, A. C., Blumberg, B. S.
|
|
<strong>An isoprecipitation reaction distinguishing human serum-protein types.</strong>
|
|
Lancet 277: 634-637, 1961. Note: Originally Volume I.
|
|
|
|
|
|
[PubMed: 13682582]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0140-6736(61)91654-3]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Allison, A. C., Blumberg, B. S.
|
|
<strong>Serum lipoprotein allotypes in man.</strong>
|
|
Prog. Med. Genet. 4: 176-201, 1965.
|
|
|
|
|
|
[PubMed: 5319116]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Antonarakis, S. E.
|
|
<strong>Personal Communication.</strong>
|
|
Baltimore, Md. 6/1987.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Barni, N., Talmud, P. J., Carlsson, P., Azoulay, M., Darnfors, C., Harding, D., Weil, D., Grzeschik, K. H., Bjursell, G., Junien, C., Williamson, R., Humphries, S. E.
|
|
<strong>The isolation of genomic recombinants for the human apolipoprotein B gene and the mapping of three common DNA polymorphisms of the gene--a useful marker for human chromosome 2.</strong>
|
|
Hum. Genet. 73: 313-319, 1986.
|
|
|
|
|
|
[PubMed: 3017840]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF00279093]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bednarska-Makaruk, M., Bisko, M., Pulawska, M. F., Hoffman-Zacharska, D., Rodo, M., Roszczynko, M., Solik-Tomassi, A., Broda, G., Polakowska, M., Pytlak, A., Wehr, H.
|
|
<strong>Familial defective apolipoprotein B-100 in a group of hypercholesterolaemic patients in Poland: identification of a new mutation Thr3492Ile in the apolipoprotein B gene.</strong>
|
|
Europ. J. Hum. Genet. 9: 836-842, 2001.
|
|
|
|
|
|
[PubMed: 11781700]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/sj.ejhg.5200720]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Benlian, P., de Gennes, J. L., Dairou, F., Hermelin, B., Ginon, I., Villain, E., Lagarde, J. P., Federspiel, M. C., Bertrand, V., Bernard, C., Bereziat, G.
|
|
<strong>Phenotypic expression in double heterozygotes for familial hypercholesterolemia and familial defective apolipoprotein B-100.</strong>
|
|
Hum. Mutat. 7: 340-345, 1996.
|
|
|
|
|
|
[PubMed: 8723684]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/(SICI)1098-1004(1996)7:4<340::AID-HUMU8>3.0.CO;2-C]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Benn, M., Nordestgaard, B. G., Jensen, J. S., Grande, P., Sillesen, H., Tybjaerg-Hansen, A.
|
|
<strong>Polymorphism in APOB associated with increases low-density lipoprotein levels in both genders in the general population.</strong>
|
|
J. Clin. Endocr. Metab. 90: 5797-5803, 2005.
|
|
|
|
|
|
[PubMed: 16030169]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1210/jc.2005-0974]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Benn, M., Nordestgaard, B. G., Jensen, J. S., Tybjaerg-Hansen, A.
|
|
<strong>Polymorphisms in apolipoprotein B and risk of ischemic stroke.</strong>
|
|
J. Clin. Endocr. Metab. 92: 3611-3617, 2007.
|
|
|
|
|
|
[PubMed: 17595251]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1210/jc.2007-0221]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Berg, K., Beckman, G., Beckman, L.
|
|
<strong>A search for linkage between the Ag and (dimeric) superoxide dismutase (SOD-1) loci.</strong>
|
|
Birth Defects Orig. Art. Ser. XI(3): 67-70, 1975. Note: Alternate: Cytogenet. Cell Genet. 14: 237-240, 1975.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Berg, K., Hames, C., Dahlen, G., Frick, M. H., Krishan, I.
|
|
<strong>Genetic variation in serum low density lipoproteins and lipid levels in man.</strong>
|
|
Proc. Nat. Acad. Sci. 73: 937-940, 1976.
|
|
|
|
|
|
[PubMed: 176662]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.73.3.937]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Berg, K., Powell, L. M., Wallis, S. C., Pease, R., Knott, T. J., Scott, J.
|
|
<strong>Genetic linkage between the antigenic group (Ag) variation and the apolipoprotein B gene: assignment of the Ag locus.</strong>
|
|
Proc. Nat. Acad. Sci. 83: 7367-7370, 1986.
|
|
|
|
|
|
[PubMed: 2876424]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.83.19.7367]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Berger, G. M. B., Brown, G., Henderson, H. E., Bonnici, F.
|
|
<strong>Apolipoprotein B detected in the plasma of a patient with homozygous hypobetalipoproteinaemia: implications for aetiology.</strong>
|
|
J. Med. Genet. 20: 189-195, 1983.
|
|
|
|
|
|
[PubMed: 6876109]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jmg.20.3.189]
|
|
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|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Blumberg, B. S., Alter, H. J., Riddell, N. M., Erlandson, M.
|
|
<strong>Multiple antigenic specificities of serum lipoproteins detected with sera of transfused patients.</strong>
|
|
Vox Sang. 9: 128-145, 1964.
|
|
|
|
|
|
[PubMed: 14147429]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1423-0410.1964.tb03672.x]
|
|
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|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Blumberg, B. S., Riddell, N. M.
|
|
<strong>Inherited antigenic differences in human serum beta lipoproteins: a second antiserum.</strong>
|
|
J. Clin. Invest. 42: 867-875, 1963.
|
|
|
|
|
|
[PubMed: 13971876]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI104779]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Blumberg, B. S.
|
|
<strong>Personal Communication.</strong>
|
|
Philadelphia, Penn. 5/16/1978.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Boehnke, M.
|
|
<strong>Allele frequency estimation from data on relatives.</strong>
|
|
Am. J. Hum. Genet. 48: 22-25, 1991.
|
|
|
|
|
|
[PubMed: 1985459]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Boerwinkle, E., Xiong, W., Fourest, E., Chan, L.
|
|
<strong>Rapid typing of tandemly repeated hypervariable loci by the polymerase chain reaction: application to the apolipoprotein B 3-prime hypervariable region.</strong>
|
|
Proc. Nat. Acad. Sci. 86: 212-216, 1989.
|
|
|
|
|
|
[PubMed: 2911570]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.86.1.212]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Boren, J., Ekstrom, U., Agren, B., Nilsson-Ehle, P., Innerarity, T. L.
|
|
<strong>The molecular mechanism for the genetic disorder familial defective apolipoprotein B100.</strong>
|
|
J. Biol. Chem. 276: 9214-9218, 2001.
|
|
|
|
|
|
[PubMed: 11115503]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1074/jbc.M008890200]
|
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</p>
|
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</li>
|
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|
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<li>
|
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<p class="mim-text-font">
|
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Boren, J., Lee, I., Zhu, W., Arnold, K., Taylor, S., Innerarity, T. L.
|
|
<strong>Identification of the low density lipoprotein receptor-binding site in apolipoprotein B100 and the modulation of its binding activity by the carboxyl terminus in familial defective apo-B100.</strong>
|
|
J. Clin. Invest. 101: 1084-1093, 1998.
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|
|
[PubMed: 9486979]
|
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|
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[Full Text: https://doi.org/10.1172/JCI1847]
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</p>
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</li>
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|
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<li>
|
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<p class="mim-text-font">
|
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Breguet, G., Butler, R., Butler-Brunner, E., Sanchez-Mazas, A.
|
|
<strong>A worldwide population study of the Ag-system haplotypes: a genetic polymorphism of human low-density lipoprotein.</strong>
|
|
Am. J. Hum. Genet. 46: 502-517, 1990.
|
|
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|
|
[PubMed: 1689953]
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</p>
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</li>
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|
|
<li>
|
|
<p class="mim-text-font">
|
|
Butler, R., Brunner, E., Morganti, G., Vierucci, A., Scaloumbacas, N., Politis, E.
|
|
<strong>A new factor in the Ag-system: Ag(g).</strong>
|
|
Vox Sang. 18: 85-89, 1970.
|
|
|
|
|
|
[PubMed: 4984720]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1423-0410.1970.tb01435.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Butler, R., Brunner, E.
|
|
<strong>On the genetics of the low density lipoprotein factors Ag(c) and Ag(e).</strong>
|
|
Hum. Hered. 19: 174-179, 1969.
|
|
|
|
|
|
[PubMed: 5808059]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1159/000152214]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Callow, M. J., Verstuyft, J., Tangirala, R., Palinski, W., Rubin, E. M.
|
|
<strong>Atherogenesis in transgenic mice with human apolipoprotein B and lipoprotein(a).</strong>
|
|
J. Clin. Invest. 96: 1639-1646, 1995.
|
|
|
|
|
|
[PubMed: 7657833]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI118203]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Carlsson, P., Olofsson, S. O., Bondjers, G., Darnfors, C., Wiklund, O., Bjursell, G.
|
|
<strong>Molecular cloning of human apolipoprotein B cDNA.</strong>
|
|
Nucleic Acids Res. 13: 8813-8826, 1985.
|
|
|
|
|
|
[PubMed: 3841204]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/nar/13.24.8813]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Chan, L., VanTuinen, P., Ledbetter, D. H., Daiger, S. P., Gotto, A. M., Jr., Chen, S. H.
|
|
<strong>The human apolipoprotein B-100 gene: a highly polymorphic gene that maps to the short arm of chromosome 2.</strong>
|
|
Biochem. Biophys. Res. Commun. 133: 248-255, 1985.
|
|
|
|
|
|
[PubMed: 4074366]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0006-291x(85)91868-6]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Chen, S.-H., Habib, G., Yang, C.-Y., Gu, Z.-W., Lee, B. R., Weng, S., Silberman, S. R., Cai, S.-J., Deslypere, J. P., Rosseneu, M., Gotto, A. M., Jr., Li, W.-H., Chan, L.
|
|
<strong>Apolipoprotein B-48 is the product of a messenger RNA with an organ-specific in-frame stop codon.</strong>
|
|
Science 238: 363-366, 1987.
|
|
|
|
|
|
[PubMed: 3659919]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1126/science.3659919]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Chen, S.-H., Yang, C.-Y., Chen, P.-F., Setzer, D., Tanimura, M., Li, W. H., Gotto, A. M., Jr., Chan, L.
|
|
<strong>The complete cDNA and amino acid sequence of human apolipoprotein B-100.</strong>
|
|
J. Biol. Chem. 261: 12918-12921, 1986.
|
|
|
|
|
|
[PubMed: 3759943]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Cladaras, C., Hadzopoulou-Cladaras, M., Nolte, R. T., Atkinson, D., Zannis, V. I.
|
|
<strong>The complete sequence and structural analysis of human apolipoprotein B-100: relationship between apoB-100 and apoB-48 forms.</strong>
|
|
EMBO J. 5: 3495-3507, 1986.
|
|
|
|
|
|
[PubMed: 3030729]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/j.1460-2075.1986.tb04675.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Collins, D. R., Knott, T. J., Pease, R. J., Powell, L. M., Wallis, S. C., Robertson, S., Pullinger, C. R., Milne, R. W., Marcel, Y. L., Humphries, S. E., Talmud, P. J., Lloyd, J. K., Miller, N. E., Muller, D., Scott, J.
|
|
<strong>Truncated variants of apolipoprotein B cause hypobetalipoproteinaemia.</strong>
|
|
Nucleic Acids Res. 16: 8361-8375, 1988.
|
|
|
|
|
|
[PubMed: 2843815]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/nar/16.17.8361]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Coresh, J., Beaty, T. H., Kwiterovich, P. O., Jr., Antonarakis, S. E.
|
|
<strong>Pedigree and sib-pair linkage analysis suggest the apolipoprotein B gene is not the major gene influencing plasma apolipoprotein B levels.</strong>
|
|
Am. J. Hum. Genet. 50: 1038-1045, 1992.
|
|
|
|
|
|
[PubMed: 1570833]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Corsini, A., Fantappie, S., Granata, A., Bernini, F., Catapano, A. L., Fumagalli, R., Romano, L., Romano, C.
|
|
<strong>Binding-defective low-density lipoprotein in family with hypercholesterolaemia.(Letter)</strong>
|
|
Lancet 339: 623 only, 1989. Note: Originally Volume I.
|
|
|
|
|
|
[PubMed: 2564152]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0140-6736(89)91659-0]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Cottrill, C., Glueck, C. J., Leuba, V., Millett, F., Puppione, D., Brown, W. V.
|
|
<strong>Familial homozygous hypobetalipoproteinemia.</strong>
|
|
Metabolism 23: 779-792, 1974.
|
|
|
|
|
|
[PubMed: 4368720]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0026-0495(74)90010-9]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Deeb, S. S., Disteche, C., Motulsky, A. G., Lebo, R. V., Kan, Y. W.
|
|
<strong>Chromosomal localization of the human apolipoprotein B gene and detection of homologous RNA in monkey intestine.</strong>
|
|
Proc. Nat. Acad. Sci. 83: 419-422, 1986.
|
|
|
|
|
|
[PubMed: 3455779]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.83.2.419]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Demant, T., Houlston, R. S., Caslake, M. J., Series, J. J., Shepherd, J., Packard, C. J., Humphries, S. E.
|
|
<strong>Catabolic rate of low density lipoprotein is influenced by variation in the apolipoprotein B gene.</strong>
|
|
J. Clin. Invest. 82: 797-802, 1988.
|
|
|
|
|
|
[PubMed: 2901432]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI113681]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Di Leo, E., Magnolo, L., Lancellotti, S., Croce, L., Visintin, L., Tiribelli, C., Bertolini, S., Calandra, S., Tarugi, P.
|
|
<strong>Abnormal apolipoprotein B pre-mRNA splicing in patients with familial hypobetalipoproteinemia. (Letter)</strong>
|
|
J. Med. Genet. 44: 219-224, 2007.
|
|
|
|
|
|
[PubMed: 17158591]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jmg.2006.046359]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Dunning, A. M., Renges, H.-H., Xu, C.-F., Peacock, R., Brasseur, R., Laxer, G., Tikkanen, M. J., Butler, R., Saha, N., Hamsten, A., Rosseneu, M., Talmud, P., Humphries, S. E.
|
|
<strong>Two amino acid substitutions in apolipoprotein B are in complete allelic association with the antigen group (x/y) polymorphism: evidence for little recombination in the 3-prime end of the human gene.</strong>
|
|
Am. J. Hum. Genet. 50: 208-221, 1992.
|
|
|
|
|
|
[PubMed: 1370364]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Espinosa-Heidmann, D. G., Sall, J., Hernandez, E. P., Cousins, S. W.
|
|
<strong>Basal laminar deposit formation in APO B100 transgenic mice: complex interactions between dietary fat, blue light, and vitamin E.</strong>
|
|
Invest. Ophthal. Vis. Sci. 45: 260-266, 2004.
|
|
|
|
|
|
[PubMed: 14691182]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1167/iovs.03-0910]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Farese, R. V., Jr., Veniant, M. M., Cham, C. M., Flynn, L. M., Pierotti, V., Loring, J. F., Traber, M., Ruland, S., Stokowski, R. S., Huszar, D., Young, S. G.
|
|
<strong>Phenotypic analysis of mice expressing exclusively apolipoprotein B48 or apolipoprotein B100.</strong>
|
|
Proc. Nat. Acad. Sci. 93: 6393-6398, 1996.
|
|
|
|
|
|
[PubMed: 8692825]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.93.13.6393]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Feussner, G., Schuster, H.
|
|
<strong>Screening for the apolipoprotein B-100 arginine3500-to-glutamine mutation in patients with type III hyperlipoproteinemia.</strong>
|
|
Clin. Genet. 42: 302-305, 1992.
|
|
|
|
|
|
[PubMed: 1493642]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1399-0004.1992.tb03260.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Friedlander, Y., Dann, E. J., Leitersdorf, E.
|
|
<strong>Absence of familial defective apolipoprotein B-100 in Israeli patients with dominantly inherited hypercholesterolemia and in offspring with parental history of myocardial infarction.(Letter)</strong>
|
|
Hum. Genet. 91: 299-300, 1993.
|
|
|
|
|
|
[PubMed: 8478017]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF00218280]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Frossard, P. M., Gonzalez, P. A., Protter, A. A., Coleman, R. T., Funke, H., Assmann, G.
|
|
<strong>Pvu II RFLP in the 5-prime of the human apolipoprotein B gene.</strong>
|
|
Nucleic Acids Res. 14: 4373, 1986.
|
|
|
|
|
|
[PubMed: 3012469]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/nar/14.10.4373]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Fujihara, M., Bartels, E., Nielsen, L. B., Handa, J. T.
|
|
<strong>A human apoB100 transgenic mouse expresses human apoB100 in the RPE and develops features of early AMD.</strong>
|
|
Exp. Eye Res. 88: 1115-1123, 2009.
|
|
|
|
|
|
[PubMed: 19450445]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/j.exer.2009.01.017]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Gabelli, C., Bilato, C., Martini, S., Tennyson, G. E., Zech, L. A., Corsini, A., Albanese, M., Brewer, H. B., Jr., Crepaldi, G., Baggio, G.
|
|
<strong>Homozygous familial hypobetalipoproteinemia: increased LDL catabolism in hypobetalipoproteinemia due to a truncated apolipoprotein B species, apo B-87-Padova.</strong>
|
|
Arterioscler. Thromb. Vasc. Biol. 16: 1189-1196, 1996.
|
|
|
|
|
|
[PubMed: 8792774]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1161/01.atv.16.9.1189]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Gangloff, A., Bergeron, J., Couture, P., Martins, R., Hegele, R. A., Gagne, C.
|
|
<strong>A novel mutation of apolipoprotein B in a French Canadian family with homozygous hypobetalipoproteinemia.</strong>
|
|
J. Clin. Lipidol. 5: 414-417, 2011.
|
|
|
|
|
|
[PubMed: 21981844]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/j.jacl.2011.06.014]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Gavish, D., Brinton, E. A., Breslow, J. L.
|
|
<strong>Heritable allele-specific differences in amounts of apoB and low-density lipoproteins in plasma.</strong>
|
|
Science 244: 72-76, 1989.
|
|
|
|
|
|
[PubMed: 2565046]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1126/science.2565046]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Glickman, R. M., Rogers, M., Glickman, J. N.
|
|
<strong>Apolipoprotein B synthesis by human liver and intestine in vitro.</strong>
|
|
Proc. Nat. Acad. Sci. 83: 5296-5300, 1986.
|
|
|
|
|
|
[PubMed: 3460091]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.83.14.5296]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hamalainen, T., Palotie, A., Aalto-Setala, K., Kontula, K., Tikkanen, M. J.
|
|
<strong>Absence of familial defective apolipoprotein B-100 in Finnish patients with elevated serum cholesterol.</strong>
|
|
Atherosclerosis 82: 177-183, 1990.
|
|
|
|
|
|
[PubMed: 2375782]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0021-9150(90)90038-k]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Harano, Y., Kojima, H., Nakano, T., Harada, M., Kashiwagi, A., Nakajima, Y., Hidaka, T. H., Ohtsuki, T., Suzuki, T., Tamura, A., Fujii, T., Nishimura, T., Ohtaka, T., Shigeta, Y.
|
|
<strong>Homozygous hypobetalipoproteinemia with spared chylomicron formation.</strong>
|
|
Metabolism 38: 1-7, 1989.
|
|
|
|
|
|
[PubMed: 2909827]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0026-0495(89)90172-8]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hardman, D. A., Protter, A. A., Chen, G. C., Schilling, J. W., Sato, K. Y., Lau, K., Yamanaka, M., Mikita, T., Miller, J., Crisp, T., McEnroe, G., Scarborough, R. M., Kane, J. P.
|
|
<strong>Structural comparisons of human apolipoproteins B-48 and B-100.</strong>
|
|
Biochemistry 26: 5478-5486, 1987.
|
|
|
|
|
|
[PubMed: 3676265]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1021/bi00391a040]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hardman, D. A., Pullinger, C. R., Hamilton, R. L., Kane, J. P., Malloy, M. J.
|
|
<strong>Molecular and metabolic basis for the metabolic disorder normotriglyceridemic abetalipoproteinemia.</strong>
|
|
J. Clin. Invest. 88: 1722-1729, 1991.
|
|
|
|
|
|
[PubMed: 1939657]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI115490]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hegele, R. A., Huang, L.-S., Herbert, P. N., Blum, C. B., Buring, J. E., Hennekens, C. H., Breslow, J. L.
|
|
<strong>Apolipoprotein B-gene polymorphisms associated with myocardial infarction.</strong>
|
|
New Eng. J. Med. 315: 1509-1515, 1986.
|
|
|
|
|
|
[PubMed: 3024002]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1056/NEJM198612113152403]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hegele, R. A., Miskie, B. A.
|
|
<strong>Acanthocytosis in a patient with homozygous familial hypobetalipoproteinemia due to a novel APOB splice site mutation.</strong>
|
|
Clin. Genet. 61: 101-103, 2002.
|
|
|
|
|
|
[PubMed: 11940084]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1034/j.1399-0004.2002.610204.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Herbert, P. N., Hyams, J. S., Bernier, D. N., Berman, M. M., Saritelli, A. L., Lynch, K. M., Nichols, A. V., Forte, T. M.
|
|
<strong>Apolipoprotein B-100 deficiency: intestinal steatosis despite apolipoprotein B-48 synthesis.</strong>
|
|
J. Clin. Invest. 76: 403-412, 1985.
|
|
|
|
|
|
[PubMed: 4031057]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI111986]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Higuchi, K., Hospattankar, A. V., Law, S. W., Meglin, N., Cortright, J., Brewer, H. B., Jr.
|
|
<strong>Human apolipoprotein B (apoB) mRNA: identification of two distinct apoB mRNAs, an mRNA with the apoB-100 sequence and an apoB mRNA containing a premature in-frame translational stop codon, in both liver and intestine.</strong>
|
|
Proc. Nat. Acad. Sci. 85: 1772-1776, 1988.
|
|
|
|
|
|
[PubMed: 2450346]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.85.6.1772]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Homanics, G. E., Smith, T. J., Zhang, S. H., Lee, D., Young, S. G., Maeda, N.
|
|
<strong>Targeted modification of the apolipoprotein B gene results in hypobetalipoproteinemia and developmental abnormalities in mice.</strong>
|
|
Proc. Nat. Acad. Sci. 90: 2389-2393, 1993.
|
|
|
|
|
|
[PubMed: 8460149]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.90.6.2389]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Homer, V. M., George, P. M., du Toit, S., Davidson, J. S., Wilson, C. J.
|
|
<strong>Mental retardation and ataxia due to normotriglyceridemic hypobetalipoproteinemia.</strong>
|
|
Ann. Neurol. 58: 160-163, 2005.
|
|
|
|
|
|
[PubMed: 15984016]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ana.20531]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Horvath, A., Savov, A., Kirov, S., Karshelova, E., Paskaleva, I., Goudev, A., Ganev, V.
|
|
<strong>High frequency of the ApoB-100 R3500Q mutation in Bulgarian hypercholesterolaemic subjects.</strong>
|
|
J. Med. Genet. 38: 536-540, 2001. Note: Erratum: J. Med. Genet. 39: 303 only, 2002.
|
|
|
|
|
|
[PubMed: 11494965]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jmg.38.8.536]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hospattankar, A. V., Fairwell, T., Meng, M., Ronan, R., Brewer, H. B., Jr.
|
|
<strong>Identification of sequence homology between human plasma apolipoprotein B-100 and apolipoprotein B-48.</strong>
|
|
J. Biol. Chem. 261: 9102-9104, 1986.
|
|
|
|
|
|
[PubMed: 3522585]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Huang, L.-S., Miller, D. A., Bruns, G. A. P., Breslow, J. L.
|
|
<strong>Mapping of the human APOB gene to chromosome 2p and demonstration of a two-allele restriction fragment length polymorphism.</strong>
|
|
Proc. Nat. Acad. Sci. 83: 644-648, 1986.
|
|
|
|
|
|
[PubMed: 3003743]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.83.3.644]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Huang, L.-S., Ripps, M. E., Korman, S. H., Deckelbaum, R. J., Breslow, J. L.
|
|
<strong>Hypobetalipoproteinemia due to an apolipoprotein B gene exon 21 deletion derived by Alu-Alu recombination.</strong>
|
|
J. Biol. Chem. 264: 11394-11400, 1989.
|
|
|
|
|
|
[PubMed: 2567736]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Huang, L.-S., Voyiaziakis, E., Chen, H. L., Rubin, E. M., Gordon, J. W.
|
|
<strong>A novel functional role for apolipoprotein B in male infertility in heterozygous apolipoprotein B knockout mice.</strong>
|
|
Proc. Nat. Acad. Sci. 93: 10903-10907, 1996.
|
|
|
|
|
|
[PubMed: 8855280]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.93.20.10903]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Huang, L.-S., Voyiaziakis, E., Markenson, D. F., Sokol, K. A., Hayek, T., Breslow, J. L.
|
|
<strong>apo B gene knockout in mice results in embryonic lethality in homozygotes and neural tube defects, male infertility, and reduced HDL cholesterol ester and apo A-1 transport rates in heterozygotes.</strong>
|
|
J. Clin. Invest. 96: 2152-2161, 1995.
|
|
|
|
|
|
[PubMed: 7593600]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI118269]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Huijgen, R., Kindt, I., Fouchier, S. W., Defesche, J. C., Hutten, B. A., Kastelein, J. J. P., Vissers, M. N.
|
|
<strong>Functionality of sequence variants in the genes coding for the low-density lipoprotein receptor and apolipoprotein B in individuals with inherited hypercholesterolemia.</strong>
|
|
Hum. Mutat. 31: 752-760, 2010.
|
|
|
|
|
|
[PubMed: 20506408]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/humu.21258]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Illingworth, D. R., Vakar, F., Mahley, R. W., Weisgraber, K. H.
|
|
<strong>Hypocholesterolaemic effects of lovastatin in familial defective apolipoprotein B-100.</strong>
|
|
Lancet 339: 598-600, 1992.
|
|
|
|
|
|
[PubMed: 1347103]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0140-6736(92)90875-4]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Innerarity, T. L., Weisgraber, K. H., Arnold, K. S., Mahley, R. W., Krauss, R. M., Vega, G. L., Grundy, S. M.
|
|
<strong>Familial defective apolipoprotein B-100: low density lipoproteins with abnormal receptor binding.</strong>
|
|
Proc. Nat. Acad. Sci. 84: 6919-6923, 1987.
|
|
|
|
|
|
[PubMed: 3477815]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.84.19.6919]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Innerarity, T. L., Young, S. G., Poksay, K. S., Mahley, R. W., Smith, R. S., Milne, R. W., Marcel, Y. L., Weisgraber, K. H.
|
|
<strong>Structural relationship of human apolipoprotein B48 to apolipoprotein B100.</strong>
|
|
J. Clin. Invest. 80: 1794-1798, 1987.
|
|
|
|
|
|
[PubMed: 3680528]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI113273]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Jackson, L., Falk, C. T., Allen, F. H., Jr., Barr, M.
|
|
<strong>A possible gene assignment to chromosome 21.</strong>
|
|
Cytogenet. Cell Genet. 13: 100-102, 1974.
|
|
|
|
|
|
[PubMed: 4363864]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1159/000130246]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kairamkonda, V., Dalzell, M.
|
|
<strong>Unusual presentation of three siblings with familial heterozygous hypobetalipoproteinaemia.</strong>
|
|
Europ. J. Pediat. 162: 129-131, 2003.
|
|
|
|
|
|
[PubMed: 12655413]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/s00431-002-1123-5]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kathiresan, S., Melander, O., Anevski, D., Guiducci, C., Burtt, N. P., Roos, C., Hirschhorn, J. N., Berglund, G., Hedblad, B., Groop, L., Altshuler, D. M., Newton-Cheh, C., Orho-Melander, M.
|
|
<strong>Polymorphisms associated with cholesterol and risk of cardiovascular events.</strong>
|
|
New Eng. J. Med. 358: 1240-1249, 2008.
|
|
|
|
|
|
[PubMed: 18354102]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1056/NEJMoa0706728]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Knott, T. J., Pease, R. J., Powell, L. M., Wallis, S. C., Rall, S. C., Jr., Innerarity, T. L., Blackhart, B., Taylor, W. H., Marcel, Y., Milne, R., Johnson, D., Fuller, M., Lusis, A. J., McCarthy, B. J., Mahley, R. W., Levy-Wilson, B., Scott, J.
|
|
<strong>Complete protein sequence and identification of structural domains of human apolipoprotein B.</strong>
|
|
Nature 323: 734-738, 1986.
|
|
|
|
|
|
[PubMed: 3773997]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/323734a0]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Knott, T. J., Rall, S. C., Jr., Innerarity, T. L., Jacobson, S. F., Urdea, M. S., Levy-Wilson, B., Powell, L. M., Pease, R. J., Eddy, R., Nakai, H., Byers, M., Priestley, L. M., Robertson, E., Rall, L. B., Betsholtz, C., Shows, T. B., Mahley, R. W., Scott, J.
|
|
<strong>Human apolipoprotein B: structure of carboxyl-terminal domains, sites of gene expression, and chromosomal localization.</strong>
|
|
Science 230: 37-43, 1985.
|
|
|
|
|
|
[PubMed: 2994225]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1126/science.2994225]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Knott, T. J., Wallis, S. C., Powell, L. M., Pease, R. J., Lusis, A. J., Blackhart, B., McCarthy, B. J., Mahley, R. W., Levy-Wilson, B., Scott, J.
|
|
<strong>Complete cDNA and derived protein sequence of human apolipoprotein B-100.</strong>
|
|
Nucleic Acids Res. 14: 7501-7503, 1986.
|
|
|
|
|
|
[PubMed: 3763409]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/nar/14.18.7501]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Krul, E. S., Kinoshita, M., Talmud, P., Humphries, S. E., Turner, S., Goldberg, A. C., Cook, K., Boerwinkle, E., Schonfeld, G.
|
|
<strong>Two distinct truncated apolipoprotein B species in a kindred with hypobetalipoproteinemia.</strong>
|
|
Arteriosclerosis 9: 856-868, 1989.
|
|
|
|
|
|
[PubMed: 2574033]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1161/01.atv.9.6.856]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lau, P. P., Zhu, H.-J., Baldini, A., Charnsangavej, C., Chan, L.
|
|
<strong>Dimeric structure of a human apolipoprotein B mRNA editing protein and cloning and chromosomal localization of its gene.</strong>
|
|
Proc. Nat. Acad. Sci. 91: 8522-8526, 1994.
|
|
|
|
|
|
[PubMed: 8078915]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.91.18.8522]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Law, A., Wallis, S. C., Powell, L. M., Pease, R. J., Brunt, H., Priestley, L. M., Knott, T. J., Scott, J., Altman, D. G., Miller, G. J., Rajput, J., Miller, N. E.
|
|
<strong>Common DNA polymorphism within coding sequence of apolipoprotein B gene associated with altered lipid levels.</strong>
|
|
Lancet 327: 1301-1303, 1986. Note: Originally Volume I.
|
|
|
|
|
|
[PubMed: 2872432]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0140-6736(86)91222-5]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Law, S. W., Grant, S. M., Higuchi, K., Hospattankar, A., Lackner, K., Lee, N., Brewer, H. B., Jr.
|
|
<strong>Human liver apolipoprotein B-100 cDNA: complete nucleic acid and derived amino acid sequence.</strong>
|
|
Proc. Nat. Acad. Sci. 83: 8142-8146, 1986.
|
|
|
|
|
|
[PubMed: 3464946]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.83.21.8142]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Law, S. W., Lackner, K. J., Hospattankar, A. V., Anchors, J. M., Sakaguchi, A. Y., Naylor, S. L., Brewer, H. B., Jr.
|
|
<strong>Human apolipoprotein B-100: cloning, analysis of liver mRNA, and assignment of the gene to chromosome 2.</strong>
|
|
Proc. Nat. Acad. Sci. 82: 8340-8344, 1985.
|
|
|
|
|
|
[PubMed: 3001697]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.82.24.8340]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Leppert, M., Breslow, J. L., Wu, L., Hasstedt, S., O'Connell, P., Lathrop, M., Williams, R. R., White, R., Lalouel, J.-M.
|
|
<strong>Inference of a molecular defect of apolipoprotein B in hypobetalipoproteinemia by linkage analysis in a large kindred.</strong>
|
|
J. Clin. Invest. 82: 847-851, 1988.
|
|
|
|
|
|
[PubMed: 2901434]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI113688]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Linton, M. F., Farese, R. V., Jr., Young, S. G.
|
|
<strong>Familial hypobetalipoproteinemia.</strong>
|
|
J. Lipid Res. 34: 521-541, 1993.
|
|
|
|
|
|
[PubMed: 8496659]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Linton, M. F., Pierotti, V., Young, S. G.
|
|
<strong>Reading-frame restoration with an apolipoprotein B gene frameshift mutation.</strong>
|
|
Proc. Nat. Acad. Sci. 89: 11431-11435, 1992.
|
|
|
|
|
|
[PubMed: 1454832]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.89.23.11431]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Loux, N., Saint-Jore, B., Collod, G., Benlian, P., Cambou, J. P., Denat, M., Junien, C., Boileau, C.
|
|
<strong>Identification of the haplotype associated with the APOB-3500 mutation in a French hypercholesterolemic subject: further support for a unique European ancestral mutation.</strong>
|
|
Hum. Mutat. 2: 145-147, 1993.
|
|
|
|
|
|
[PubMed: 8318993]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/humu.1380020216]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ludwig, E. H., Friedl, W., McCarthy, B. J.
|
|
<strong>High-resolution analysis of a hypervariable region in the human apolipoprotein B gene.</strong>
|
|
Am. J. Hum. Genet. 45: 458-464, 1989.
|
|
|
|
|
|
[PubMed: 2773938]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ludwig, E. H., McCarthy, B. J.
|
|
<strong>Haplotype analysis of the human apolipoprotein B mutation associated with familial defective apolipoprotein B100.</strong>
|
|
Am. J. Hum. Genet. 47: 712-720, 1990.
|
|
|
|
|
|
[PubMed: 1977310]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lusis, A. J., West, R., Mehrabian, M., Reuben, M. A., LeBoeuf, R. C., Kaptein, J. S., Johnson, D. F., Schumaker, V. N., Yuhasz, M. P., Schotz, M. C., Elovson, J.
|
|
<strong>Cloning and expression of apolipoprotein B, the major protein of low and very low density lipoproteins.</strong>
|
|
Proc. Nat. Acad. Sci. 82: 4597-4601, 1985.
|
|
|
|
|
|
[PubMed: 3860811]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.82.14.4597]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Malloy, M. J., Kane, J. P., Hardman, D. A., Hamilton, R. L., Dalal, K. B.
|
|
<strong>Normotriglyceridemic abetalipoproteinemia: absence of the B-100 apolipoprotein.</strong>
|
|
J. Clin. Invest. 67: 1441-1450, 1981.
|
|
|
|
|
|
[PubMed: 7229035]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/jci110173]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Marz, W., Baumstark, M. W., Scharnagl, H., Ruzicka, V., Buxbaum, S., Herwig, J., Pohl, T., Russ, A., Schaaf, L., Berg, A., Bohles, H.-J., Usadel, K. H., Gro, W.
|
|
<strong>Accumulation of 'small dense' low density lipoproteins (LDL) in a homozygous patient with familial defective apolipoprotein B-100 results from heterogenous interaction of LDL subfractions with the LDL receptor.</strong>
|
|
J. Clin. Invest. 92: 2922-2933, 1993.
|
|
|
|
|
|
[PubMed: 8254047]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI116915]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Marz, W., Ruzicka, C., Pohl, T., Usadel, K. H., Gross, W.
|
|
<strong>Familial defective apolipoprotein B-100: mild hypercholesterolaemia without atherosclerosis in a homozygous patient.(Letter)</strong>
|
|
Lancet 340: 1362, 1992.
|
|
|
|
|
|
[PubMed: 1360085]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0140-6736(92)92554-s]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
McCormick, S. P. A., Fellowes, A. P., Walmsley, T. A., George, P. M.
|
|
<strong>Apolipoprotein B-32: a new truncated mutant of human apolipoprotein B capable of forming particles in the low density lipoprotein range.</strong>
|
|
Biochim. Biophys. Acta 1138: 290-296, 1992.
|
|
|
|
|
|
[PubMed: 1562615]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0925-4439(92)90006-9]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Mehrabian, M., Sparkes, R. S., Mohandas, T., Klisak, I. J., Schumaker, V. N., Heinzmann, C., Zollman, S., Ma, Y., Lusis, A. J.
|
|
<strong>Human apolipoprotein B: chromosomal mapping and DNA polymorphisms of hepatic and intestinal species.</strong>
|
|
Somat. Cell Molec. Genet. 12: 245-254, 1986.
|
|
|
|
|
|
[PubMed: 3012797]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF01570783]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Morganti, G., Beolchini, P. B., Butler, R., Butler-Brunner, E., Vierucci, A.
|
|
<strong>Contribution to the genetics of serum beta-lipoproteins in man. VIII. Linkage of the Ag(h-i)locus with the Ag(x-y), Ag(a1-d), Ag(c-g), and Ag(t-z) loci.</strong>
|
|
Humangenetik 30: 341-342, 1975.
|
|
|
|
|
|
[PubMed: 176106]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF00275148]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Morganti, G., Beolchini, P. E., Butler, R., Brunner, E., Vierucci, A.
|
|
<strong>Contribution to the genetics of serum beta-lipoproteins in man. IV. Evidence for the existence of the Ag(A1-D) and Ag(C-G) loci, closely linked to the Ag(X-Y) locus.</strong>
|
|
Humangenetik 10: 244-253, 1970.
|
|
|
|
|
|
[PubMed: 5475509]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF00295787]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Myant, N. B., Forbes, S. A., Day, I. N. M., Gallaghers, J.
|
|
<strong>Estimation of the age of the ancestral arginine3500-to-glutamine mutation in human apoB-100.</strong>
|
|
Genomics 45: 78-87, 1997.
|
|
|
|
|
|
[PubMed: 9339363]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1006/geno.1997.4898]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Naganawa, S., Kodama, T., Aburatani, H., Matsumoto, A., Itakura, H., Takashima, Y., Kawamura, M., Muto, Y.
|
|
<strong>Genetic analysis of a Japanese family with normotriglyceridemic abetalipoproteinemia indicates a lack of linkage to the apolipoprotein B gene.</strong>
|
|
Biochem. Biophys. Res. Commun. 182: 99-104, 1992.
|
|
|
|
|
|
[PubMed: 1731805]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0006-291x(05)80117-2]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Parhofer, K. G., Barrett, P. H. R., Bier, D. M., Schonfeld, G.
|
|
<strong>Lipoproteins containing the truncated apolipoprotein, apoB-89, are cleared from human plasma more rapidly than apoB-100-containing lipoproteins in vivo.</strong>
|
|
J. Clin. Invest. 89: 1931-1937, 1992.
|
|
|
|
|
|
[PubMed: 1602000]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI115799]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Protter, A. A., Hardman, D. A., Sato, K. Y., Schilling, J. W., Yamanaka, M., Hort, Y. J., Hjerrild, K. A., Chen, G. C., Kane, J. P.
|
|
<strong>Analysis of cDNA clones encoding the entire B-26 region of human apolipoprotein B.</strong>
|
|
Proc. Nat. Acad. Sci. 83: 5678-5682, 1986.
|
|
|
|
|
|
[PubMed: 3461454]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.83.15.5678]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Protter, A. A., Hardman, D. A., Schilling, J. W., Miller, J., Appleby, V., Chen, G. C., Kirsher, S. W., McEnroe, G., Kane, J. P.
|
|
<strong>Isolation of a cDNA clone encoding the amino-terminal region of human apolipoprotein B.</strong>
|
|
Proc. Nat. Acad. Sci. 83: 1467-1471, 1986.
|
|
|
|
|
|
[PubMed: 3513177]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.83.5.1467]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Pulai, J. I., Neuman, R. J., Groenewegen, A. W., Wu, J., Schonfeld, G.
|
|
<strong>Genetic heterogeneity in familial hypobetalipoproteinemia: linkage and non-linkage to the apoB gene in Caucasian families.</strong>
|
|
Am. J. Med. Genet. 76: 79-86, 1998.
|
|
|
|
|
|
[PubMed: 9508071]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Pullinger, C. R., Hennessy, L. K., Chatterton, J. E., Liu, W., Love, J. A., Mendel, C. M., Frost, P. H., Malloy, M. J., Schumaker, V. N., Kane, J. P.
|
|
<strong>Familial ligand-defective apolipoprotein B: identification of a new mutation that decreases LDL receptor binding affinity.</strong>
|
|
J. Clin. Invest. 95: 1225-1234, 1995.
|
|
|
|
|
|
[PubMed: 7883971]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI117772]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Rajput-Williams, J., Knott, T. J., Wallis, S. C., Sweetnam, P., Yarnell, J., Cox, N., Bell, G. I., Miller, N. E., Scott, J.
|
|
<strong>Variation of apolipoprotein-B gene is associated with obesity, high blood cholesterol levels, and increased risk of coronary heart disease.</strong>
|
|
Lancet 332: 1442-1446, 1988. Note: Originally Volume II.
|
|
|
|
|
|
[PubMed: 2904569]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0140-6736(88)90930-0]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Rapacz, J., Hasler-Rapacz, J., Taylor, K. M., Checovich, W. J., Attie, A. D.
|
|
<strong>Lipoprotein mutations in pigs are associated with elevated plasma cholesterol and atherosclerosis.</strong>
|
|
Science 234: 1573-1577, 1986.
|
|
|
|
|
|
[PubMed: 3787263]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1126/science.3787263]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Rauh, G., Keller, C., Schuster, H., Wolfram, G., Zollner, N.
|
|
<strong>Familial defective apolipoprotein B-100: a common cause of primary hypercholesterolemia.</strong>
|
|
Clin. Invest. 70: 77-84, 1992.
|
|
|
|
|
|
[PubMed: 1600334]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF00422946]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Roychoudhury, A. K., Nei, M.
|
|
<strong>Human Polymorphic Genes: World Distribution.</strong>
|
|
New York: Oxford Univ. Press (pub.) 1988.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Rubinsztein, D. C., Raal, F. J., Seftel, H. C., Pilcher, G., Coetzee, G. A., van der Westhuyzen, D. R.
|
|
<strong>Characterization of six patients who are double heterozygotes for familial hypercholesterolemia and familial defective apo B-100.</strong>
|
|
Arterioscler. Thromb. 13: 1076-1081, 1993.
|
|
|
|
|
|
[PubMed: 8318509]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1161/01.atv.13.7.1076]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Saint-Jore, B., Varret, M., Dachet, C., Rabes, J.-P., Devillers, M., Erlich, D., Blanchard, P., Krempf, M., Mathe, D., Chanu, B., Jacotot, B., Farnier, M., Bonaiti-Pellie, C., Junien, C., Boileau, C.
|
|
<strong>Autosomal dominant type IIa hypercholesterolemia: evaluation of the respective contributions of LDLR and APOB gene defects as well as a third major group of defects.</strong>
|
|
Europ. J. Hum. Genet. 8: 621-630, 2000.
|
|
|
|
|
|
[PubMed: 10952765]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/sj.ejhg.5200516]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Schaefer, J. R., Scharnagl, H., Baumstark, M. W., Schweer, H., Zech, L. A., Seyberth, H., Winkler, K., Steinmetz, A., Marz, W.
|
|
<strong>Homozygous familial defective apolipoprotein B-100: enhanced removal of apolipoprotein E-containing VLDLs and decreased production of LDLs.</strong>
|
|
Arterioscler. Thromb. Vasc. Biol. 17: 348-353, 1997.
|
|
|
|
|
|
[PubMed: 9081691]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1161/01.atv.17.2.348]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Schonfeld, G.
|
|
<strong>The hypobetalipoproteinemias.</strong>
|
|
Annu. Rev. Nutr. 15: 23-34, 1995.
|
|
|
|
|
|
[PubMed: 8527219]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1146/annurev.nu.15.070195.000323]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Schonfeld, G.
|
|
<strong>Personal Communication.</strong>
|
|
St. Louis, Mo. 3/24/1998.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Shoulders, C. C., Myant, N. B., Sidoli, A., Rodriguez, J. C., Cortese, C., Baralle, F. E., Cortese, R.
|
|
<strong>Molecular cloning of human LDL apolipoprotein B cDNA: evidence for more than one gene per haploid genome.</strong>
|
|
Atherosclerosis 58: 277-289, 1985.
|
|
|
|
|
|
[PubMed: 3841481]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0021-9150(85)90073-5]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Singh, M. K., Pandey, U. B., Ghoshal, U. C., Srivenu, I., Kapoor, V. K., Choudhuri, G., Mittal, B.
|
|
<strong>Apolipoprotein B-100 XbaI gene polymorphism in gallbladder cancer.</strong>
|
|
Hum. Genet. 114: 280-283, 2004.
|
|
|
|
|
|
[PubMed: 14618390]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/s00439-003-1056-8]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Skalen, K., Gustafsson, M., Rydberg, E. K., Hulten, L. M., Wiklund, O., Innerarity, T. L., Boren, J.
|
|
<strong>Subendothelial retention of atherogenic lipoproteins in early atherosclerosis.</strong>
|
|
Nature 417: 750-754, 2002.
|
|
|
|
|
|
[PubMed: 12066187]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/nature00804]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Soria, L. F., Ludwig, E. H., Clarke, H. R. G., Vega, G. L., Grundy, S. M., McCarthy, B. J.
|
|
<strong>Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100.</strong>
|
|
Proc. Nat. Acad. Sci. 86: 587-591, 1989.
|
|
|
|
|
|
[PubMed: 2563166]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.86.2.587]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Soutschek, J., Akinc, A., Bramlage, B., Charisse, K., Constien, R., Donoghue, M., Elbashir, S., Geick, A., Hadwiger, P., Harborth, J., John, M., Kesavan, V., and 13 others.
|
|
<strong>Therapeutic silencing of an endogenous gene by systemic administration of modified siRNAs.</strong>
|
|
Nature 432: 173-178, 2004.
|
|
|
|
|
|
[PubMed: 15538359]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/nature03121]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Steinberg, D., Grundy, S. M., Mok, H. Y. I., Turner, J. D., Weinstein, D. B., Brown, W. V., Albers, J. J.
|
|
<strong>Metabolic studies in an unusual case of asymptomatic familial hypobetalipoproteinemia with hypoalphalipoproteinemia and fasting chylomicronemia.</strong>
|
|
J. Clin. Invest. 64: 292-301, 1979.
|
|
|
|
|
|
[PubMed: 221546]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI109451]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Takashima, Y., Kodama, T., Iida, H., Kawamura, M., Aburatani, H., Itakura, H., Akanuma, Y., Takaku, F., Kawade, M.
|
|
<strong>Normotriglyceridemic abetalipoproteinemia in infancy: an isolated apolipoprotein B-100 deficiency.</strong>
|
|
Pediatrics 75: 541-546, 1985.
|
|
|
|
|
|
[PubMed: 3975124]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Talmud, P. J., Converse, C., Krul, E., Huq, L., McIlwaine, G. G., Series, J. J., Boyd, P., Schonfeld, G., Dunning, A., Humphries, S.
|
|
<strong>A novel truncated apolipoprotein B (apo B55) in a patient with familial hypobetalipoproteinemia and atypical retinitis pigmentosa.</strong>
|
|
Clin. Genet. 42: 62-70, 1992.
|
|
|
|
|
|
[PubMed: 1424233]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1399-0004.1992.tb03141.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Talmud, P. J., Lloyd, J. K., Muller, D. P. R., Collins, D. R., Scott, J., Humphries, S.
|
|
<strong>Genetic evidence from two families that the apolipoprotein B gene is not involved in abetalipoproteinemia.</strong>
|
|
J. Clin. Invest. 82: 1803-1806, 1988.
|
|
|
|
|
|
[PubMed: 2903181]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI113795]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Talmud, P., King-Underwood, L., Krul, E., Schonfeld, G., Humphries, S.
|
|
<strong>The molecular basis of truncated forms of apolipoprotein B in a kindred with compound heterozygous hypobetalipoproteinemia.</strong>
|
|
J. Lipid Res. 30: 1773-1779, 1989.
|
|
|
|
|
|
[PubMed: 2614276]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Tamir, I., Levtow, O., Lotan, D., Legum, C., Heldenberg, D., Werbin, B.
|
|
<strong>Further observations on familial hypobetalipoproteinemia.</strong>
|
|
Clin. Genet. 9: 149-155, 1976.
|
|
|
|
|
|
[PubMed: 174851]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1399-0004.1976.tb01561.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Teslovich, T. M., Musunuru, K., Smith, A. V., Edmondson, A. C., Stylianou, I. M., Koseki, M., Pirruccello, J. P., Ripatti, S., Chasman, D. I., Willer, C. J., Johansen, C. T., Fouchier, S. W., and 197 others.
|
|
<strong>Biological, clinical and population relevance of 95 loci for blood lipids.</strong>
|
|
Nature 466: 707-713, 2010.
|
|
|
|
|
|
[PubMed: 20686565]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/nature09270]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Tybjaerg-Hansen, A., Humphries, S. E.
|
|
<strong>Familial defective apolipoprotein B-100: a single mutation that causes hypercholesterolemia and premature coronary artery disease.</strong>
|
|
Atherosclerosis 96: 91-107, 1992.
|
|
|
|
|
|
[PubMed: 1466657]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0021-9150(92)90056-m]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Tybjaerg-Hansen, A., Steffensen, R., Meinertz, H., Schnohr, P., Nordestgaard, B. G.
|
|
<strong>Association of mutations in the apolipoprotein B gene with hypercholesterolemia and the risk of ischemic heart disease.</strong>
|
|
New Eng. J. Med. 338: 1577-1584, 1998.
|
|
|
|
|
|
[PubMed: 9603795]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1056/NEJM199805283382203]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Vega, G. L., Grundy, S. M.
|
|
<strong>In vivo evidence for reduced binding of low density lipoproteins to receptors as a cause of primary moderate hypercholesterolemia.</strong>
|
|
J. Clin. Invest. 78: 1410-1414, 1986.
|
|
|
|
|
|
[PubMed: 3771801]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI112729]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Visvikis, S., Chan, L., Siest, G., Drouin, P., Boerwinkle, E.
|
|
<strong>An insertion deletion polymorphism in the signal peptide of the human apolipoprotein B gene.</strong>
|
|
Hum. Genet. 84: 373-375, 1990.
|
|
|
|
|
|
[PubMed: 2307462]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF00196239]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Weisgraber, K. H., Innerarity, T. L., Newhouse, Y. M., Young, S. G., Arnold, K. S., Krauss, R. M., Vega, G. L., Grundy, S. M., Mahley, R. W.
|
|
<strong>Familial defective apolipoprotein B-100: enhanced binding of monoclonal antibody MB47 to abnormal low density lipoproteins.</strong>
|
|
Proc. Nat. Acad. Sci. 85: 9758-9762, 1988.
|
|
|
|
|
|
[PubMed: 3200853]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.85.24.9758]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Welty, F. K., Hubl, S. T., Pierotti, V. R., Young, S. G.
|
|
<strong>A truncated species of apolipoprotein B (B67) in a kindred with familial hypobetalipoproteinemia.</strong>
|
|
J. Clin. Invest. 87: 1748-1754, 1991.
|
|
|
|
|
|
[PubMed: 2022744]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI115193]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Xu, C., Nanjee, N., Tikkanen, M. J., Huttunen, J. K., Pietinen, P., Butler, R., Angelico, F., Del Ben, M., Mazzarella, B., Antonio, R., Miller, N. G., Humphries, S., Talmud, P. J.
|
|
<strong>Apolipoprotein B amino acid 3611 substitution from arginine to glutamine creates the Ag (h/i) epitope: the polymorphism is not associated with differences in serum cholesterol and apolipoprotein B levels.</strong>
|
|
Hum. Genet. 82: 322-326, 1989.
|
|
|
|
|
|
[PubMed: 2472350]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF00273990]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Yang, C.-Y., Chen, S.-H., Gianturco, S. H., Bradley, W. A., Sparrow, J. T., Tanimura, M., Li, W.-H., Sparrow, D. A., DeLoof, H., Rosseneu, M., Lee, F.-S., Gu, Z.-W., Gotto, A. M., Jr., Chan, L.
|
|
<strong>Sequence, structure, receptor-binding domains and internal repeats of human apolipoprotein B-100.</strong>
|
|
Nature 323: 738-742, 1986.
|
|
|
|
|
|
[PubMed: 3095664]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/323738a0]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Young, S. G., Bertics, S. J., Curtiss, L. K., Casal, D. C., Witztum, J. L.
|
|
<strong>Monoclonal antibody MB19 detects genetic polymorphism in human apolipoprotein B.</strong>
|
|
Proc. Nat. Acad. Sci. 83: 1101-1105, 1986.
|
|
|
|
|
|
[PubMed: 2419898]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.83.4.1101]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Young, S. G., Bertics, S. J., Curtiss, L. K., Dubois, B. W., Witztum, J. L.
|
|
<strong>Genetic analysis of a kindred with familial hypobetalipoproteinemia: evidence for two separate gene defects: one associated with an abnormal apolipoprotein B species, apolipoprotein B-37; and a second associated with low plasma concentrations of apolipoprotein B-100.</strong>
|
|
J. Clin. Invest. 79: 1842-1851, 1987.
|
|
|
|
|
|
[PubMed: 3473077]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI113026]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Young, S. G., Bertics, S. J., Curtiss, L. K., Witztum, J. L.
|
|
<strong>Characterization of an abnormal species of apolipoprotein B, apolipoprotein B-37, associated with familial hypobetalipoproteinemia.</strong>
|
|
J. Clin. Invest. 79: 1831-1841, 1987.
|
|
|
|
|
|
[PubMed: 3584472]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI113025]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Young, S. G., Bertics, S. J., Scott, T. M., Dubois, B. W., Curtiss, L. K., Witztum, J. L.
|
|
<strong>Parallel expression of the MB19 genetic polymorphism in apoprotein B-100 and apoprotein B-48: evidence that both apoproteins are products of the same gene.</strong>
|
|
J. Biol. Chem. 261: 2995-2998, 1986.
|
|
|
|
|
|
[PubMed: 3949756]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Young, S. G., Hubl, S. T., Chappell, D. A., Smith, R. S., Claiborne, F., Snyder, S. M., Terdiman, J. F.
|
|
<strong>Familial hypobetalipoproteinemia associated with a mutant species of apolipoprotein B (B-46).</strong>
|
|
New Eng. J. Med. 320: 1604-1610, 1989.
|
|
|
|
|
|
[PubMed: 2725600]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1056/NEJM198906153202407]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Young, S. G., Hubl, S. T., Smith, R. S., Snyder, S. M., Terdiman, J. F.
|
|
<strong>Familial hypobetalipoproteinemia caused by a mutation in the apolipoprotein B gene that results in a truncated species of apolipoprotein B (B-31): a unique mutation that helps to define the portion of the apolipoprotein B molecule required for the formation of buoyant, triglyceride-rich lipoproteins.</strong>
|
|
J. Clin. Invest. 85: 933-942, 1990.
|
|
|
|
|
|
[PubMed: 2312735]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI114522]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Young, S. G., Northey, S. T., McCarthy, B. J.
|
|
<strong>Low plasma cholesterol levels caused by a short deletion in the apolipoprotein B gene.</strong>
|
|
Science 241: 591-593, 1988.
|
|
|
|
|
|
[PubMed: 3399894]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1126/science.3399894]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Yue, P., Yuan, B., Gerhard, D. S., Neuman, R. J., Isley, W. L., Harris, W. S., Schonfeld, G.
|
|
<strong>Novel mutations of APOB cause ApoB truncations undetectable in plasma and familial hypobetalipoproteinemia.</strong>
|
|
Hum. Mutat. 20: 110-116, 2002. Note: Erratum: Hum. Mutat. 20: 402 only, 2002.
|
|
|
|
|
|
[PubMed: 12124991]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/humu.10101]
|
|
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|
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<p>
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Thank you in advance for your generous support, <br />
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Ada Hamosh, MD, MPH <br />
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Scientific Director, OMIM <br />
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